Ontology Browser

Term:
bestrophinopathy (DOID:0050662)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
retinal disease +     
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Alacrima +   
Albinism +   
angioid streaks +  
aniridia +   
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
Ausems Wittebol-Post Hennekam Syndrome 
basal laminar drusen  
bestrophinopathy  
A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. (DO)
Bietti crystalline corneoretinal dystrophy  
Bothnia retinal dystrophy  
bradyopsia  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Central Serous Chorioretinopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
chorioretinal scar +  
Choroideremia +   
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 hypotrichosis with juvenile macular dystrophy  
Congenital Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
degeneration of macula and posterior pole +   
Duane retraction syndrome +   
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
enhanced S-cone syndrome  
Fleck Retina, Familial Benign  
FLOTCH Syndrome 
Foveal Hypoplasia with Anterior Segment Anomalies  
fundus albipunctatus  
Geographic Atrophy  
Glaucoma 1, Open Angle, P  
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
high hyperopia  
Histiocytic Dermatoarthritis 
hypertensive retinopathy  
Iris Hypoplasia and Glaucoma  
Iris Pigment Epithelium Anomalies 
Isolated Foveal Hypoplasia 
Joubert syndrome 8  
Kuhnt-Junius degeneration +   
Leber congenital amaurosis +   
Macular Degeneration, Early-Onset  
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT  
Macular Dystrophy, Concentric Annular  
Macular Dystrophy, Retinal, 3 
Macular Dystrophy, X-Linked +   
macular retinal edema +   
megalocornea +   
Microcephaly and Chorioretinopathy +   
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
nerve fibre bundle defect 
night blindness +   
occult macular dystrophy  
Oculomelic Amyoplasia  
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
patterned macular dystrophy +   
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
Pigmented Paravenous Chorioretinal Atrophy  
PORETTI-BOLTSHAUSER SYNDROME  
preretinal fibrosis  
primary congenital glaucoma +   
proliferative vitreoretinopathy +   
pseudopapilledema 
Radial Drusen, Autosomal Dominant 
Rambaud Galian Syndrome 
Ramos Arroyo Clark Syndrome 
renal hypomagnesemia 5 with ocular involvement  
Retina Reperfusion Injury  
Retinal Aplasia 
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis  
Retinal Arteries, Tortuosity of  
retinal artery occlusion +   
retinal degeneration +   
retinal detachment +   
Retinal Dysplasia +   
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  
rubeosis iridis 
Sickle Cell Retinopathy  
Sorsby's fundus dystrophy  
Spondyloocular Syndrome, Autosomal Recessive  
Stargardt disease +   
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
Vitreoretinochoroidopathy  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   

Synonyms
Exact Synonyms: ARB ;   Bestrophinopathy, Autosomal Recessive
Narrow Synonyms: Multifocal retinopathy 1 ;   Multifocal retinopathy 2 ;   Multifocal retinopathy 3
Primary IDs: MESH:C567518 ;   OMIM:611809 ;   RDO:0009564
Alternate IDs: OMIA:001444 ;   OMIA:001553 ;   OMIA:001554 ;   RDO:0015578
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/24859690, https://www.ncbi.nlm.nih.gov/pubmed/25545482, https://www.omim.org/entry/611809

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.