FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term epithelial-stromal TGFBI dystrophy ID (Ontology) DOID:0060441 (Human Disease)
Definition 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.
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  corneal disease
   |__corneal dystrophy
       |__epithelial-stromal TGFBI dystrophy  3 rec.
           |__granular corneal dystrophy 3 rec.
           |   |__granular corneal dystrophy 1 3 rec.
           |   |__granular corneal dystrophy 2 3 rec.
           |__lattice corneal dystrophy 3 rec.
           |__Reis-Bucklers corneal dystrophy 3 rec.
           |__Thiel-Behnke corneal dystrophy 3 rec.
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