cone-rod dystrophy 7

Summary
Synonym
  • CORD7
Definition
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13.
Super Class
cone-rod dystrophy
External Links
Disease Ontology
DOID:0111012
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6785 ELOVL4 ELOVL fatty acid elongase 4
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9GZR5 Very long chain fatty acid elongase 4
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

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024