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Ontology Browser

Term:
Metabolic disease associated with ocular features (EFO:Orphanet:98710)
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Parent Terms Term With Siblings Child Terms
Blindness-scoliosis-arachnodactyly syndrome 
Central cloudy dystrophy of Francois 
Connective tissue disease with eye involvement +   
Corneal dystrophy - perceptive deafness 
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 
Ectodermal malformation syndrome associated with ocular features +  
Familial amyloidosis, Finnish type 
Fuchs endothelial corneal dystrophy  
Genetic developmental defect of the eye +  
Genetic lens and zonula anomaly +  
Genetic neuro-ophthalmological disease +  
Genetic vitreous-retinal disease +  
Genodermatosis with ocular features +  
Metabolic disease associated with ocular features +  
Microcystic corneal dystrophy 
Optic neuropathy +  
Rare disease with glaucoma as a major feature +  
Rare genetic palpebral, lacrimal system and conjunctival disease +  
Rare genetic refraction anomaly +  
Reis-Bücklers corneal dystrophy 
Spastic ataxia - corneal dystrophy 
Subaortic stenosis - short stature 
X-linked reticulate pigmentary disorder with systemic manifestations 

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