autosomal dominant nonsyndromic deafness 41

Term ID

DOID:0110567

Synonyms

• autosomal dominant deafness 41
• DFNA41

Definition

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. (2)

References

• ICD10CM:H90.3
• OMIM:608224

Ontology

Human Disease   ( DOID:0110567 )