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Disease Ontology Browser
kyphomelic dysplasia (DOID:0061155)
Alliance: disease page
Synonyms: pseudocampomelia
Alt IDs: OMIM:211350
Definition: A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23.

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)
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Send questions and comments to User Support. 		last database update
07/29/2025
MGI 6.24 		The Jackson Laboratory