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Metadata
ID	DOID:0070799
PURL	http://purl.obolibrary.org/obo/DOID_0070799 Copy Copied!
Name	kyphomelic dysplasia, Itai-Ikegawa type
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. https://pubmed.ncbi.nlm.nih.gov/37934770/, https://pubmed.ncbi.nlm.nih.gov/35342932/
Xrefs	MIM:621644
SKOS	exactMatch MIM:621644
Subsets	DO_rare_slim
Synonyms	KDII [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a bone development disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance