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Corneal endothelial dystrophy type 2 MeSH Supplementary Concept Data 2022


MeSH Supplementary
Corneal endothelial dystrophy type 2
Unique ID
C536439
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536439
Entry Term(s)
CHED2 Congenital hereditary endothelial dystrophy of the cornea 2
Congenital hereditary endothelial dystrophy of the cornea
Corneal Endothelial Dystrophy 2
Corneal dystrophy, congenital hereditary endothelial
Maumenee corneal dystrophy
Registry Number
0
Previous Indexing
*FUCHS' ENDOTHELIAL DYSTROPHY (2010-2015)
Heading Mapped to
*Corneal Dystrophies, Hereditary
Frequency
23
Note
A hereditary autosomal recessive form of corneal dystrophy characterized by thickening and opacification of the CORNEA, altered morphology of the ENDOTHELIUM, and secretion of an abnormal collagenous layer at the DESCEMET MEMBRANE. There are both autosomal dominant (OMIM: 121700) and autosomal recessive (CHED2) forms, with the latter being more common and more severe. Mutations in the SLC4A11 gene have been identified. OMIM: 217700
Date of Entry
2010/08/25
Revision Date
2019/06/20
Corneal endothelial dystrophy type 2 Preferred
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