1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110971 | brachydactyly type D | A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. |
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. |