1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111158 | SADDAN | A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |