| Metadata | |
|---|---|
| ID | DOID:0110475 |
| Name | autosomal recessive nonsyndromic deafness 1A |
| Definition | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/9139825 |
| Xrefs | |
| Synonyms |
autosomal recessive deafness 1A [EXACT] DFNB1A [EXACT] |
| Parent Relationships |
is_a autosomal recessive nonsyndromic deafness is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance |