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 11 - 20 of 83 in total
Gene ID Gene Symbol Description Source
962 CD48 CD48 molecule
972 CD74 CD74 molecule
1497 CTNS cystinosin, lysosomal cystine transporter
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
1636 ACE angiotensin I converting enzyme
1892 ECHS1 enoyl-CoA hydratase, short chain 1
2194 FASN fatty acid synthase
2539 G6PD glucose-6-phosphate dehydrogenase
2710 GK glycerol kinase
2739 GLO1 glyoxalase I

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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