1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070061 | autosomal dominant intellectual developmental disorder 31 | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. |
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. |