autosomal recessive nonsyndromic deafness 4

Term ID

DOID:0110498

Synonyms

• autosomal recessive deafness 4 with enlarged vestibular aqueduct
• DFNB4

Definition

An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. https://www.ncbi.nlm.nih.gov/pubmed/9500541

References

• ICD10CM:H90.3
• OMIM:600791

Ontology

Human Disease   ( DOID:0110498 )