autosomal dominant nonsyndromic deafness 13

Term ID

DOID:0110545

Synonyms

• autosomal dominant deafness 13
• DFNA13

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. https://www.ncbi.nlm.nih.gov/pubmed/10581026

References

• ICD10CM:H90.3
• OMIM:601868

Ontology

Human Disease   ( DOID:0110545 )