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Summary Literature (0)
MIM:184252 - SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK

Xenbase Genes: trpv4

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008477 - spondylometaphyseal dysplasia, Kozlowski type

Disease Ontology (DO):
DOID:0111554 - spondylometaphyseal dysplasia Kozlowski type