Term Name:	spondylometaphyseal dysplasia Kozlowski type
Synonyms:	dysmorphism arthrogryposis skeletal maturation advanced, Jequier Kozlowski skeletal dysplasia, Jequier-Kozlowski syndrome, skeletal dysplasia Jequier-Kozlowski type, SMD Kozlowski type
Definition:	A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
Ontology:	Human Disease [DOID:0111554]   ( DOID:0111554 )