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Standards Ontologies Notations
basal laminar drusen

Summary
Synonym
  • cuticular drusen
  • drusen of bruch membrane
  • early adult-onset grouped drusen
Definition
A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3.
Super Class
monogenic disease retinal drusen
Disease Ontology
DOID:0060746
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3075 CFH complement factor H
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12628 Cfh complement component factor h
214403 Cfhr4 complement factor H-related 4
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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