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Term:
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 
 Amaurosis - hypertrichosis 
 autosomal dominant retinitis pigmentosa 
 Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome 
 autosomal recessive retinitis pigmentosa 
 Best vitelliform macular dystrophy 
 Bietti crystalline dystrophy 
 Butterfly-shaped pigment dystrophy 
 Cleft lip - retinopathy 
 Color-vision disease +  
 Ectopia lentis - chorioretinal dystrophy - myopia 
 Familial drusen 
 Familial exudative vitreoretinopathy 
 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome 
 Hypogonadotropic hypogonadism - retinitis pigmentosa 
 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome 
 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 
 Osteochondrodysplatic nanism - deafness - retinitis pigmentosa 
 Osteoporosis - pseudoglioma 
 Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract 
 Primary ciliary dyskinesia - retinitis pigmentosa 
 Progressive cone dystrophy 
 proliferative vitreoretinopathy 
 Retinal degeneration - nanophthalmos - glaucoma 
 Retinal vasculopathy and cerebral leukodystrophy +  
 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism 
 Spastic tetraplegia - retinitis pigmentosa - intellectual disability 
 Unclassified familial retinal dystrophy +  
 Unclassified primitive or secondary maculopathy +  
 vitreous detachment 
 Xeroderma pigmentosum complementation group B 
 Xeroderma pigmentosum complementation group D 
 Xeroderma pigmentosum complementation group F 
 Xeroderma pigmentosum complementation group G 
 Åland Islands eye disease 

Synonyms
External Ontologys: has_disease_location EFO:UBERON:0000970

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