autosomal recessive nonsyndromic deafness 36

Term ID

DOID:0110494

Synonyms

• autosomal recessive deafness 36
• DFNB36

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/15286153

References

• ICD10CM:H90.3
• OMIM:609006

Ontology

Human Disease   ( DOID:0110494 )