Human genes for spondylometaphyseal dysplasia Kozlowski type
Spondylometaphyseal dysplasia Kozlowski type [DOID:0111554]
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 TRPV4 on chromosome 12q24.11.
Synonyms: spondylometaphyseal dysplasia Kozlowski type, DOID:0111554, spondylometaphyseal dysplasia Kozlowski types, dysmorphism arthrogryposis skeletal maturation advanced, Jequier Kozlowski skeletal dysplasia ...