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General Information
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| Term |
granular corneal dystrophy 2 |
ID (Ontology) |
DOID:0060444 (Human Disease) |
| Definition |
An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. |
| Also Known As |
"avellino corneal dystrophy" ; "CGD2" ; "combined granular-lattice corneal dystrophy" (for all, see Synonyms field below) |
| 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 2 | 3 | for disease ribbon | granular corneal dystrophy 2 | 3 | model of | granular corneal dystrophy 2 | 3 |
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Relationships