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Term:
Reis-Bucklers corneal dystrophy (DOID:0060453)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aniridia 1  
band keratopathy 
Bietti crystalline corneoretinal dystrophy  
Brachymesomelia Renal Syndrome 
Chorioretinal Atrophy, Progressive Bifocal 
Congenital Corneal Opacities, Cornea Guttata, and Corectopia 
Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 
congenital stromal corneal dystrophy  
Corneal Cerebellar Syndrome 
Corneal Dystrophy and Perceptive Deafness  
corneal endothelial dystrophy +   
Corneodermatoosseous Syndrome 
Dermochondrocorneal Dystrophy of Fran├žois 
Edict Syndrome  
epithelial and subepithelial dystrophy +   
Epithelial Recurrent Erosion Dystrophy  
epithelial-stromal TGFBI dystrophy +   
Fleck corneal dystrophy  
granular corneal dystrophy +   
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 
Judge Misch Wright Syndrome 
Kuster Majewski Hammerstein Syndrome 
lattice corneal dystrophy +   
Lisch epithelial corneal dystrophy 
macular corneal dystrophy  
Macular Corneal Dystrophy, Type II  
Macular Dystrophy, Fenestrated Sheen Type 
Macular Dystrophy, Retinal, 1, North Carolina Type 
Macular Dystrophy, Retinal, 2  
Meesmann corneal dystrophy  
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Mousa Al din Al Nassar Syndrome 
O'Donnell Pappas Syndrome  
Oculodental Syndrome Rutherfurd Syndrome 
posterior amorphous corneal dystrophy 
posterior polymorphous corneal dystrophy +   
Pseudoinflammatory Fundus Dystrophy, Finnish Type  
Reis-Bucklers corneal dystrophy  
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)
Ribbonlike Corneal Degeneration with Deafness 
Sammartino De Crecchio Syndrome 
Schnyder corneal dystrophy  
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
stromal dystrophy +   
subepithelial mucinous corneal dystrophy 
Sveinsson chorioretinal atrophy  
Thiel-Behnke corneal dystrophy  

Synonyms
Exact Synonyms: CDB1 ;   CDRB ;   Corneal Dystrophy Of Bowman Layer, Type I ;   Corneal Dystrophy of Bowman Layer, Type 1 ;   Corneal dystrophy, Reis-Bucklers type ;   Corneal dystrophy, geographic ;   Granular Corneal Dystrophy, Type III ;   RBCD ;   Reis-Bucklers dystrophy ;   anterior limiting membrane dystrophy type I
Primary IDs: MESH:C535476 ;   RDO:0000610
Alternate IDs: OMIM:608470
Xrefs: ORDO:98961
Definition Sources: https://www.omim.org/entry/608470

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