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Ontology Browser

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 
Congenital Corneal Opacities, Cornea Guttata, and Corectopia 
Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 
Corneal Cerebellar Syndrome 
corneal dystrophy-perceptive deafness syndrome  
corneal endothelial dystrophy +   
Corneodermatoosseous Syndrome 
Dermochondrocorneal Dystrophy of Fran├žois 
EDICT Syndrome  
epithelial and subepithelial dystrophy +   
epithelial-stromal TGFBI dystrophy +   
granular corneal dystrophy +   
Ichthyosiform Erythroderma, Corneal Involvement, Deafness  
Judge Misch Wright Syndrome 
Kuster Majewski Hammerstein Syndrome 
lattice corneal dystrophy +   
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Mousa Al din Al Nassar Syndrome 
O'Donnell Pappas Syndrome  
Oculodental Syndrome Rutherfurd Syndrome 
posterior polymorphous corneal dystrophy +   
Progressive Bifocal Chorioretinal Atrophy  
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 
spondyloepiphyseal dysplasia with punctate corneal dystrophy 
spondylometaphyseal dysplasia with corneal dystrophy  
stromal dystrophy +   
Sveinsson chorioretinal atrophy  
Thiel-Behnke corneal dystrophy  

Exact Synonyms: CDB1 ;   CDRB ;   RBCD ;   Reis-Bucklers dystrophy ;   anterior limiting membrane dystrophy type I ;   corneal dystrophy of Bowman layer, type 1 ;   corneal dystrophy of Bowman layer, type I ;   corneal dystrophy, Reis-Bucklers type ;   geographic corneal dystrophy ;   granular corneal dystrophy type III
Primary IDs: MESH:C535476
Alternate IDs: OMIM:608470
Xrefs: ORDO:98961
Definition Sources: "DO" "DO"

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