Search Ontology:
Human Disease
kyphomelic dysplasia
- Term ID
- DOID:0061155
- Synonyms
-
- pseudocampomelia
- 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. https://pubmed.ncbi.nlm.nih.gov/39506047/
- References
- Ontology
- Human Disease ( DOID:0061155 )
Other Pages
Genes Involved
Zebrafish Models