posterior polymorphous corneal dystrophy 2

Summary
Synonym
  • Ppcd2
Definition
A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3.
Super Class
autosomal dominant disease posterior polymorphous corneal dystrophy
Disease Ontology
DOID:0110856
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1296 COL8A2 collagen type VIII alpha 2 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
329941 Col8a2 collagen, type VIII, alpha 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024