1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070601 | autosomal dominant nonsyndromic deafness 37 | An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |