X-linked cone-rod dystrophy 1

Summary
Synonym
  • COD1
  • CORDX1
  • X-linked cone dystrophy 1
Definition
A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.
Super Class
cone-rod dystrophy
External Links
Disease Ontology
DOID:0111008
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
962 CD48 CD48 molecule
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P09326 CD48 antigen
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000551 Color vision defect
HP:0000662 Nyctalopia
HP:0000505 Visual impairment
HP:0007703 Abnormality of retinal pigmentation
HP:0000613 Photophobia
Displaying 1 entry
Gene ID Gene Symbol Description
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4

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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