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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
aniridia-renal agenesis-psychomotor retardation syndrome 
ankyloblepharon filiforme-imperforate anus syndrome 
atrioventricular defect-blepharophimosis-radial and anal defect syndrome 
cataract-glaucoma syndrome 
CHIME syndrome 
cortical blindness-intellectual disability-polydactyly syndrome 
EEC syndrome +  
eye adnexa disease +   
eye disease +   
A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [NCIt:C26767] An eye and adnexa disease that is located in the eye.
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 
intellectual disability-strabismus syndrome 
jaw-winking syndrome +  
Joubert syndrome with ocular defect 
Joubert syndrome with oculorenal defect +  
Kearns-Sayre syndrome 
maternally-inherited progressive external ophthalmoplegia 
microcephaly-microcornea syndrome, Seemanova type 
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 
Mietens syndrome 
ocular albinism +  
oculogastrointestinal muscular dystrophy 
oculomotor nerve paralysis +   
optic nerve disorder +   
orbit neoplasm +  
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 
RHYNS syndrome 
spastic ataxia-corneal dystrophy syndrome 
Stern-Lubinsky-Durrie syndrome 
vision disorder +   
 Accommodative esotropia 
 Alagille syndrome +  
 alpha-mannosidosis +  
 anterior segment dysgenesis +  
 autoimmune/inflammatory optic neuropathy +   
 Axenfeld anomaly 
 blindness - scoliosis - arachnodactyly syndrome 
 chondroectodermal dysplasia with night blindness 
 choroidal neovascularization 
 coloboma +  
 conjunctival disorder +   
 corneal disease +   
 developmental defect of the eye +   
 diabetic eye disease +   
 dyssegmental dysplasia-glaucoma syndrome 
 ectodermal dysplasia-blindness syndrome 
 Ehlers-Danlos syndrome, kyphoscoliotic type 1 
 essential strabismus 
 eye accommodation disease +   
 eye adnexa disease +   
 eye allergy +  
 eye degenerative disorder +   
 eye foreign body 
 eye hemorrhage +  
 eye infectious disorder +   
 Eye Injuries, Penetrating 
 eye neoplasm +   
 eyelid disease +   
 familial cavitary optic disk anomaly 
 fatty acyl-CoA reductase 1 deficiency 
 Foster-Kennedy syndrome 
 galactosemia +  
 galactosialidosis 
 Gardner syndrome 
 Gaucher disease +   
 glaucoma +   
 glaucoma-sleep apnea syndrome 
 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 
 GM1 gangliosidosis +  
 Graves ophthalmopathy  
 hereditary hyperferritinemia with congenital cataracts 
 hereditary optic neuropathy +  
 IgG4-related ophthalmic disorder +  
 IRVAN syndrome 
 isolated ankyloblepharon filiforme adnatum 
 isolated anophthalmia-microphthalmia syndrome +  
 isolated Pierre-Robin syndrome 
 Ito hypomelanosis 
 lacrimal apparatus disease +   
 lamellar ichthyosis +  
 lens disease +   
 Lowry-MacLean syndrome 
 LTBP2-related ocular dysgenesis +  
 Marshall syndrome 
 megalocornea-intellectual disability syndrome 
 mevalonic aciduria 
 microcornea-corectopia-macular hypoplasia syndrome 
 microcornea-glaucoma-absent frontal sinuses syndrome 
 microphthalmia +  
 mucolipidosis type IV 
 mucopolysaccharidosis type 1 +  
 mucopolysaccharidosis type 6 +  
 nail-patella syndrome 
 Netherton syndrome 
 neuroocular syndrome 
 Niemann-Pick disease type A 
 Non-accomodative esotropia 
 occular toxicity 
 ocular cystinosis 
 ocular hypertension  
 ocular hypotension 
 ocular motility disease +   
 ocular motor apraxia, Cogan type 
 ocular posterior capsular rupture 
 ocular sarcoidosis  
 ocular siderosis 
 ocular vascular disease +   
 oculocerebrorenal syndrome 
 oculodentodigital dysplasia +  
 oculomucocutaneous syndrome 
 Opsoclonus-Myoclonus Syndrome 
 optic neuritis +   
 Peters plus syndrome 
 phakomatosis pigmentovascularis +  
 piebaldism 
 pigment dispersion syndrome  
 ptosis +   
 Rare genetic eye disease +   
 red color blindness 
 refractive error +   
 retinopathy +   
 Retrobulbar Hemorrhage 
 rhizomelic chondrodysplasia punctata +  
 Rothmund-Thomson syndrome type 2 
 scleral disorder +  
 SHORT syndrome 
 Smith-Lemli-Opitz syndrome 
 Sturge-Weber syndrome 
 subacute myelo-opticoneuropathy 
 syndromic recessive X-linked ichthyosis 
 Takayasu arteritis  
 Tietz syndrome 
 tyrosinemia type II 
 uveal disorder +   
 vitreous body disease +   
 X-linked cone dysfunction syndrome with myopia 

Synonyms
Exact Synonyms: DOID:1242 ;   DOID:5614 ;   NCIT:C26767 ;   disease of eye ;   disease of eyeball of camera-type eye ;   disease or disorder of eyeball of camera-type eye ;   disorder of eye ;   disorder of eyeball of camera-type eye ;   eye disorder ;   eyeball of camera-type eye disease
Related Synonyms: disease of eyeball ;   disorder of eye proper ;   disorder of eyeball ;   disorder of globe
Xrefs: DOID:1242 ;   DOID:5614 ;   HP:0000478 ;   ICD10:H44 ;   ICD9:360 ;   ICD9:360.29 ;   ICD9:360.89 ;   ICD9:360.9 ;   ICD9:379.8 ;   ICD9:379.90
External Ontologys: disease_has_location EFO:UBERON:0000019 ;   disease_has_location EFO:UBERON:0010230
Definition Sources: NCIT:C26767

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