Leber congenital amaurosis 19

Summary
Definition
A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16.
Super Class
Leber congenital amaurosis
Disease Ontology
DOID:0081169
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
77593 Usp45 ubiquitin specific petidase 45

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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