autosomal dominant nonsyndromic deafness 13

Summary
Synonym
  • DFNA13
  • autosomal dominant deafness 13
Definition
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.
Super Class
autosomal dominant nonsyndromic deafness
Disease Ontology
DOID:0110545
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1302 COL11A2 collagen type XI alpha 2 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
12815 Col11a2 collagen, type XI, alpha 2

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 v4.1.0

Last updated: December 9, 2024