autosomal recessive nonsyndromic deafness 48

Term ID

DOID:0110505

Synonyms

• autosomal recessive deafness 48
• DFNB48

Definition

An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. https://www.ncbi.nlm.nih.gov/pubmed/23023331

References

• ICD10CM:H90.3
• OMIM:609439

Ontology

Human Disease   ( DOID:0110505 )