autosomal dominant nonsyndromic deafness 2B

Term ID

DOID:0110559

Synonyms

• autosomal dominant deafness 2B
• DFNA2B

Definition

An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. https://www.ncbi.nlm.nih.gov/pubmed/9843210

References

• ICD10CM:H90.3
• OMIM:612644

Ontology

Human Disease   ( DOID:0110559 )