Newfoundland cone-rod dystrophy

Summary
Synonym
  • NFRCD
Definition
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.
Super Class
cone-rod dystrophy
Disease Ontology
DOID:0111015
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6017 RLBP1 retinaldehyde binding protein 1

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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