Link to this page
Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
Jump to:
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_8943 |
|
| alternative label |
familial amyloid neuropathy, Finnish type
|
|
| database_cross_reference |
MESH:C537935 MIM:122200
|
|
| 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.
|
|
| has exact synonym |
familial amyloid neuropathy, Finnish type
|
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:8943
|
|
| label |
lattice corneal dystrophy
|
|
| notation |
DOID:8943
|
|
| note |
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.
|
|
| preferred label |
lattice corneal dystrophy
|
|
| prefLabel |
lattice corneal dystrophy
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping