autosomal dominant nonsyndromic deafness 12

Summary
Synonym
  • DFNA12
  • DFNA8
  • autosomal dominant deafness 12
  • autosomal dominant deafness 8
Definition
An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.
Super Class
autosomal dominant nonsyndromic deafness
Disease Ontology
DOID:0110544
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7007 TECTA tectorin alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
21683 Tecta tectorin alpha
The Human Phenotype Ontology
Displaying all 2 entries
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000407 Sensorineural hearing impairment
Displaying 1 entry
Gene ID Gene Symbol Description
7007 TECTA tectorin alpha

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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: December 9, 2024