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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Eye Abnormalities +     
Hereditary Eye Diseases +     
retinal disease +     
3MC syndrome 1  
ablepharon macrostomia syndrome  
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Alacrima +   
Albinism +   
angioid streaks +  
aniridia +   
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment dysgenesis +   
Asymmetric Short Stature Syndrome 
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
Ausems Wittebol-Post Hennekam Syndrome 
Axenfeld-Rieger syndrome +   
basal laminar drusen  
Basel-Vanagaite-Smirin-Yosef syndrome  
bestrophinopathy  
Bietti crystalline corneoretinal dystrophy  
blepharophimosis +   
Blue Diaper Syndrome 
Bothnia retinal dystrophy  
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
bradyopsia  
Brittle Cornea Syndrome +   
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Central Serous Chorioretinopathy  
Chemke Oliver Mallek Syndrome 
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
chorioretinal scar +  
Choroidal Effusions +  
Choroideremia +   
chromosome 6pter-p24 deletion syndrome 
CODAS syndrome  
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
cone dystrophy +   
cone-rod dystrophy +   
Congenital Alacrima +   
Congenital Fibrosis of Extraocular Muscles, 2  
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement  
Congenital Fibrosis of Extraocular Muscles, 3B  
Congenital Fibrosis of Extraocular Muscles, 3C 
Congenital Fibrosis of Extraocular Muscles, 5  
Congenital Mydriasis +   
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
cryptophthalmia +   
De Hauwere syndrome 
Desanto-Shinawi Syndrome  
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 
distal arthrogryposis type 5  
Duane retraction syndrome +   
Dwarfism Stiff Joint Ocular Abnormalities 
Ectopia Lentis +   
Egg-Shaped Pupil 
enhanced S-cone syndrome  
exudative vitreoretinopathy +   
FACES Syndrome 
familial benign fleck retina  
FLOTCH Syndrome 
Foveal Hypoplasia +   
Foveal Hypoplasia and Anterior Segment Dysgenesis  
Foveal Hypoplasia with Anterior Segment Anomalies 
Fronto-Facio-Nasal Dysplasia 
Frontoocular Syndrome 
fundus albipunctatus  
Glaucoma 1, Open Angle, P  
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
high hyperopia  
Histiocytic Dermatoarthritis 
hydrophthalmos +   
hypertensive retinopathy  
iridogoniodysgenesis syndrome +   
Iris Hypoplasia and Glaucoma 
Iris Pigment Epithelium Anomalies 
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 8  
Joubert syndrome 9  
Kapur Toriello Syndrome 
Leber congenital amaurosis +   
Maxillofacial Dysostosis 
megalocornea +   
Microcephaly and Chorioretinopathy +   
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
MOMES Syndrome 
neovascular inflammatory vitreoretinopathy  
Nephrotic Syndrome with Ocular Anomalies 
nerve fibre bundle defect 
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
night blindness +   
oblique facial clefting 1  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Pena Shokeir Syndrome Type 2 
Peripapillary Atrophy, Beta Type 
persistent hyperplastic primary vitreous +   
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
PHACE Association  
Pierson syndrome  
pigmented paravenous chorioretinal atrophy  
popliteal pterygium syndrome +   
PORETTI-BOLTSHAUSER SYNDROME  
Prepapillary Vascular Loops 
preretinal fibrosis  
primary congenital glaucoma +   
pseudopapilledema 
Pupillary Membrane, Persistence of 
Radial Drusen, Autosomal Dominant 
Rambaud Galian Syndrome 
Ramos Arroyo Clark Syndrome 
renal hypomagnesemia 5 with ocular involvement  
Retina Reperfusion Injury  
Retinal Aplasia 
retinal arterial tortuosity  
retinal artery occlusion +   
retinal degeneration +   
retinal detachment +   
Retinal Dysplasia +   
Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary.
RETINAL DYSTROPHY WITH LEUKODYSTROPHY  
Retinal Dystrophy, Early Onset Severe  
retinal edema +   
Retinal Hemorrhage +   
Retinal Neoplasms +   
Retinal Neovascularization  
retinal perforation +  
retinal vascular disease +   
retinal vasculitis +   
retinal vasculopathy with cerebral leukodystrophy  
retinitis +   
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
retinopathy of prematurity +   
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Roifman Syndrome  
Rozin Hertz Goodman Syndrome 
rubeosis iridis 
Schmid-Fraccaro Syndrome  
Sickle Cell Retinopathy  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Stromme syndrome  
torsion dystonia with onset in infancy  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
X-Linked Macular Dystrophy +   

Synonyms
Exact Synonyms: Retinal Dysplasias
Primary IDs: MESH:D015792 ;   RDO:0003599
Definition Sources: MESH:D015792

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