Search Ontology:
Human Disease
kyphomelic dysplasia, Itai-Ikegawa type
- Term ID
- DOID:0070799
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0070799 )
Other Pages
Genes Involved
Zebrafish Models