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 61 - 70 of 83 in total
Gene ID Gene Symbol Description Source
10908 PNPLA6 patatin like phospholipase domain containing 6
23423 TMED3 transmembrane p24 trafficking protein 3
23600 AMACR alpha-methylacyl-CoA racemase
25839 COG4 component of oligomeric golgi complex 4
27036 SIGLEC7 sialic acid binding Ig like lectin 7
27255 CNTN6 contactin 6
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55768 NGLY1 N-glycanase 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