About   Help   FAQ
Disease Ontology Browser
kyphomelic dysplasia, Itai-Ikegawa type (DOID:0070799)
Alliance: disease page
Synonyms: KDII
Alt IDs: OMIM:621644
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory