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 81 - 83 of 83 in total
Gene ID Gene Symbol Description Source
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
340075 ARSI arylsulfatase family member I
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