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Metadata
ID	DOID:0061155
Name	kyphomelic dysplasia
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/
Xrefs	MIM:211350
Synonyms	pseudocampomelia [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a bone remodeling disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance has phenotype some Bowing of the long bones