posterior polymorphous corneal dystrophy 4

Summary
Definition
A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22.
Super Class
autosomal dominant disease posterior polymorphous corneal dystrophy
Disease Ontology
DOID:0080669
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79977 GRHL2 grainyhead like transcription factor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
252973 Grhl2 grainyhead like transcription factor 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