autosomal recessive nonsyndromic deafness 7

Term ID

DOID:0110520

Synonyms

• autosomal recessive deafness 7
• DFNB11
• DFNB7

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/11850618

References

• ICD10CM:H90.3
• OMIM:600974

Ontology

Human Disease   ( DOID:0110520 )