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General Information
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| Term |
granular corneal dystrophy 1 |
ID (Ontology) |
DOID:0080530 (Human Disease) |
| Definition |
A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of 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 of the corneal surface. |
| Also Known As |
"corneal dystrophy, Groenouw type I" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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granular corneal dystrophy 1 | 3 | for disease ribbon | granular corneal dystrophy 1 | 3 | model of | granular corneal dystrophy 1 | 3 |
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Relationships