Ontology Browser

Term:
Bothnia retinal dystrophy (DOID:0050683)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
fundus dystrophy +     
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  
Bietti crystalline corneoretinal dystrophy  
Bothnia retinal dystrophy  
A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO)
bradyopsia  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Central Serous Chorioretinopathy  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism  
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 Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
dominant pericentral pigmentary retinopathy 
Duane retraction syndrome +   
dystrophies primarily involving the retinal pigment epithelium +   
enhanced S-cone syndrome  
Fleck Retina, Familial Benign  
FLOTCH Syndrome 
Foveal Hypoplasia with Anterior Segment Anomalies  
fundus albipunctatus  
Ghose Sachdev Kumar Syndrome 
Glaucoma 1, Open Angle, P  
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
high hyperopia  
Histiocytic Dermatoarthritis 
hypertensive retinopathy  
Iris Hypoplasia and Glaucoma  
Iris Pigment Epithelium Anomalies 
Isolated Foveal Hypoplasia 
Joubert syndrome 8  
Leber congenital amaurosis +   
Macular Dystrophy, X-Linked +   
megalocornea +   
Microcephaly and Chorioretinopathy +   
Microcephaly with Chorioretinopathy, Autosomal Dominant 
nerve fibre bundle defect 
night blindness +   
Oculomelic Amyoplasia  
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
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  
Reticular Dystrophy of Retinal Pigment Epithelium 
Reticular Pigmentary Retinal Dystrophy of Posterior Pole 
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 dystrophies primarily involving Bruch's membrane 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy and Obesity  
retinal dystrophy in systemic or cerebroretinal lipidoses 
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES  
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES  
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA  
Retinal Dystrophy, Early Onset Severe  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
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  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
vitreoretinal dystrophy 
Vitreoretinochoroidopathy  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   

Synonyms
Exact Synonyms: Vasterbotten Dystrophy
Primary IDs: MESH:C564392 ;   RDO:0013373
Alternate IDs: OMIM:607475
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11176989, https://www.omim.org/entry/607475

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