autosomal dominant nonsyndromic deafness 1

Term ID

DOID:0110541

Synonyms

• autosomal dominant deafness 1
• autosomal dominant deafness 1, with or without thrombocytopenia
• DFNA1
• hereditary low frequency hearing loss 1
• Konigsmark syndrome
• LFHL1

Definition

An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. https://www.ncbi.nlm.nih.gov/pubmed/9360932

References

• ICD10CM:H90.3
• MIM:124900

Ontology

Human Disease   ( DOID:0110541 )