autosomal dominant nonsyndromic deafness 28

Term ID

DOID:0110557

Synonyms

• autosomal dominant deafness 28
• DFNA28

Definition

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/12393799

References

• ICD10CM:H90.3
• OMIM:608641

Ontology

Human Disease   ( DOID:0110557 )