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Ontology Browser

Term:
epithelial-stromal TGFBI dystrophy (DOID:0060441)
Annotations: Rat: (5) Mouse: (5) Human: (5) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
corneal dystrophy +     
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 +   
A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. (DO)
Ichthyosiform Erythroderma, Corneal Involvement, Deafness  
Judge Misch Wright Syndrome 
Kuster Majewski Hammerstein Syndrome 
Macular Dystrophy, Fenestrated Sheen Type 
Macular Dystrophy, Retinal, 2  
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  
Pseudoinflammatory Fundus Dystrophy, Finnish Type  
Reis-Bucklers corneal dystrophy  
Retinal Macular Dystrophy 1, North Carolina Type  
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  

Synonyms
Primary IDs: RDO:9004323
Definition Sources: https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO" "DO"

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