Term Name: | epithelial-stromal TGFBI dystrophy |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060441] ( DOID:0060441 ) |