autosomal recessive nonsyndromic deafness 6

Term ID

DOID:0110512

Synonyms

• autosomal recessive deafness 6
• DFNB6

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/12145746

References

• ICD10CM:H90.3
• OMIM:600971

Ontology

Human Disease   ( DOID:0110512 )