autosomal recessive nonsyndromic deafness 70

Term ID

DOID:0110521

Synonyms

• autosomal recessive deafness 70
• DFNB70

Definition

An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. https://www.ncbi.nlm.nih.gov/pubmed/23084290

References

• ICD10CM:H90.3
• OMIM:614934

Ontology

Human Disease   ( DOID:0110521 )