1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0081317 | multiple synostoses syndrome 1 | A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:1934 | dysostosis | A bone development disease that results in defective ossification of bone. |