autosomal dominant nonsyndromic deafness 3B

Term ID

DOID:0110565

Synonyms

• autosomal dominant deafness 3B
• DFNA3B

Definition

An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/10471490

References

• ICD10CM:H90.3
• OMIM:612643

Ontology

Human Disease   ( DOID:0110565 )