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 51 - 60 of 83 in total
Gene ID Gene Symbol Description Source
8526 DGKE diacylglycerol kinase epsilon
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
8867 SYNJ1 synaptojanin 1
9126 SMC3 structural maintenance of chromosomes 3
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
9365 KL klotho
9514 GAL3ST1 galactose-3-O-sulfotransferase 1
9563 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
10559 SLC35A1 solute carrier family 35 member A1
10585 POMT1 protein O-mannosyltransferase 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