cone-rod dystrophy

Summary
Synonym
  • cone-rod retinal dystrophy
Definition
A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
Super Class
monogenic disease retinal degeneration
External Links
Disease Ontology
DOID:0050572
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 41 - 50 of 83 in total
Gene ID Gene Symbol Description Source
5621 PRNP prion protein (Kanno blood group)
5728 PTEN phosphatase and tensin homolog
6120 RPE ribulose-5-phosphate-3-epimerase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6392 SDHD succinate dehydrogenase complex subunit D
6441 SFTPD surfactant protein D
6448 SGSH N-sulfoglucosamine sulfohydrolase
6646 SOAT1 sterol O-acyltransferase 1
6785 ELOVL4 ELOVL fatty acid elongase 4
Related Glycoprotein
Displaying entries 71 - 72 of 72 in total
UniProt ID Protein Name Source
Q9Y5P6 Mannose-1-phosphate guanyltransferase beta
Q9Y6A1 Protein O-mannosyl-transferase 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: August 19, 2024