Microphthalmia, Isolated, With Coloboma 10 |
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Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
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Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Microphthalmia, Isolated 8 |
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Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Microphthalmia, Syndromic 12 |
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Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
OMIM:615524 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
Walker-Warburg Syndrome |
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Retinal detachment, Skeletal muscle atrophy, Anophthalmia, Retinal dystrophy, Chorioretinal dyspl... |
ORPHA:899 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Microphthalmia, Retinal dysplasia, Muscular dystrophy |
OMIM:614830 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:600776 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Microphthalmia, Syndromic 5 |
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Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Coloboma, Microphthalmia |
OMIM:610125 |
Microphthalmia With Brain And Digit Anomalies |
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Anophthalmia, Retinal dystrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:139471 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Microphthalmia, Congenital muscular dystrophy, Retinal dysplasia, Coloboma |
ORPHA:324416 |
Oculocerebrocutaneous Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:164180 |
Trisomy 13 |
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Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris... |
ORPHA:3378 |
Anencephaly 2 |
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Anophthalmia |
OMIM:619452 |
Congenital Primary Aphakia |
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Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... |
ORPHA:83461 |
Solitary Median Maxillary Central Incisor |
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Microphthalmia, Cyclopia, Anophthalmia, Coloboma |
OMIM:147250 |
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 |
Anophthalmia Plus Syndrome |
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Anophthalmia, Iris coloboma |
ORPHA:1104 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Microphthalmia, Anophthalmia, Iris coloboma |
ORPHA:77298 |
Matthew-Wood Syndrome |
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Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
ORPHA:2470 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, Abnormal vitreous humor mor... |
ORPHA:1101 |
Oculopalatocerebral Syndrome |
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Microphthalmia, Remnants of the hyaloid vascular system |
OMIM:257910 |
Cockayne Syndrome Type 2 |
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Anophthalmia, Flexion contracture, Limb hypertonia |
ORPHA:90322 |
Trisomy 1Q |
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Anophthalmia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:261344 |
Hydrolethalus |
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Microphthalmia, Anophthalmia |
ORPHA:2189 |
Cerebrooculonasal Syndrome |
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Anophthalmia |
ORPHA:66625 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Anophthalmia, Camptodactyly of 2nd-5th fingers |
OMIM:206920 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Pierson Syndrome |
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Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
Cockayne Syndrome Type 1 |
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Pigmentary retinopathy, Anophthalmia, Optic atrophy, Foot joint contracture |
ORPHA:90321 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Microphthalmia, Anophthalmia, Coloboma |
OMIM:615877 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Holoprosencephaly |
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Anophthalmia, Congenital diaphragmatic hernia, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:2162 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microphthalmia |
OMIM:206900 |
Microphthalmia, Syndromic 9 |
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Diaphragmatic eventration, Anophthalmia, Bilateral microphthalmos, Congenital diaphragmatic hernia |
OMIM:601186 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Buphthalmos, Retinal nonattachment, Retinal fold, Microp... |
OMIM:221900 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Co... |
ORPHA:2556 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Joubert Syndrome 21 |
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Retinopathy, Anophthalmia, Optic atrophy, Megalopapilla |
OMIM:615636 |
Vacterl With Hydrocephalus |
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Microphthalmia, Anophthalmia, Abnormal optic nerve morphology |
ORPHA:3412 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia, Iris coloboma |
ORPHA:2250 |
Cerebrooculonasal Syndrome |
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Iris coloboma, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Norrie Disease |
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Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... |
OMIM:310600 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia... |
ORPHA:141099 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Flexion contracture, M... |
OMIM:300166 |
Meckel Syndrome |
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Anophthalmia, Abnormal chorioretinal morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, M... |
ORPHA:564 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Fibular Hemimelia |
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Anophthalmia |
ORPHA:93323 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Anophthalmia, Congenital muscular torticollis |
ORPHA:2538 |
Charge Syndrome |
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Anophthalmia, Facial palsy, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:138 |
Focal Dermal Hypoplasia |
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Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Optic atrophy, Chorioretinal colo... |
OMIM:305600 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Camptodactyly of 2nd-5th fingers, Optic atrophy, True anophthalmia |
ORPHA:1106 |
Atelis Syndrome 2 |
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Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage |
OMIM:620185 |
Charge Syndrome |
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Anophthalmia, Facial palsy, Unilateral microphthalmos, Coloboma, Retinal coloboma, Microphthalmia... |
OMIM:214800 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Facial palsy, Retinal hamartoma, Epiretinal membrane, Wr... |
ORPHA:637 |
Microphthalmia, Syndromic 6 |
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Microphthalmia, Anophthalmia, Retinal dystrophy, Coloboma |
OMIM:607932 |
Branchiooculofacial Syndrome |
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Anophthalmia, Facial palsy, Elbow flexion contracture, Retinal coloboma, Microphthalmia, Iris col... |
OMIM:113620 |
Fraser Syndrome 1 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Fraser Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2052 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Optic disc coloboma, Ciliary body coloboma, Chorioretinal coloboma, Camptodactyly, ... |
OMIM:309800 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Abno... |
ORPHA:649 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... |
OMIM:157170 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Scapular winging, Remnants of the hyaloid vascular system, Lens coloboma... |
OMIM:619539 |
Craniofacial Microsomia 1 |
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Microphthalmia, Anophthalmia, Hypoplasia of facial musculature |
OMIM:164210 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
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OMIM:615760 |