| Term Name: | kyphomelic dysplasia, Itai-Ikegawa type |
|---|---|
| Synonyms: | KDII |
| Definition: | A bone development disease characterized by small thorax, bent long bones, short stature, and common facial dysmorphisms that has_material_basis_in heterozygous mutation in the KIF5B gene on chromosome 10p11. |
| Ontology: | Human Disease [DOID:0070799] ( DOID:0070799 ) |