autosomal dominant nonsyndromic deafness 49

Term ID

DOID:0110572

Synonyms

• autosomal dominant deafness 49
• DFNA49

Definition

An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. https://www.ncbi.nlm.nih.gov/pubmed/14627674

References

• ICD10CM:H90.3
• OMIM:608372

Ontology

Human Disease   ( DOID:0110572 )