autosomal recessive nonsyndromic deafness 40

Term ID

DOID:0110499

Synonyms

• autosomal recessive deafness 40
• DFNB40

Definition

An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. https://www.ncbi.nlm.nih.gov/pubmed/14512974

References

• ICD10CM:H90.3
• OMIM:608264

Ontology

Human Disease   ( DOID:0110499 )