autosomal dominant nonsyndromic deafness 12

Term ID

DOID:0110544

Synonyms

• autosomal dominant deafness 12
• autosomal dominant deafness 8
• DFNA12
• DFNA8

Definition

An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/9590290

References

• ICD10CM:H90.3
• OMIM:601543

Ontology

Human Disease   ( DOID:0110544 )