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Human Disease Ontology
Last uploaded:
November 27, 2024
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| Preferred Name | lattice corneal dystrophy | |
| Synonyms |
familial amyloid neuropathy, Finnish type |
|
| Definitions |
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior 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 located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface. |
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| ID |
http://purl.obolibrary.org/obo/DOID_8943 |
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| database_cross_reference |
MESH:C537935 MIM:122200
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|
| definition |
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior 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 located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface.
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| has exact synonym |
familial amyloid neuropathy, Finnish type
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:8943
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|
| label |
lattice corneal dystrophy
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|
| notation |
DOID:8943
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|
| prefLabel |
lattice corneal dystrophy
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| subClassOf |
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