autosomal recessive nonsyndromic deafness 18B

Summary
Synonym
  • DFNB18B
  • autosomal recessive deafness 18B
Definition
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15.
Super Class
autosomal recessive nonsyndromic deafness
Disease Ontology
DOID:0110474
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
340990 OTOG otogelin
Displaying 1 entry
Gene ID Gene Symbol Description Source
18419 Otog otogelin
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000407 Sensorineural hearing impairment
HP:0001756 Vestibular hypofunction
HP:0000007 Autosomal recessive inheritance
HP:0003577 Congenital onset
HP:0000750 Delayed speech and language development
Displaying 1 entry
Gene ID Gene Symbol Description
340990 OTOG otogelin

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