Human genes for metatropic dysplasia
Metatropic dysplasia [DOID:0111514]
A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
Synonyms: metatropic dysplasia, DOID:0111514, metatropic dysplasias, metatropic dwarfism, metatropic dwarfisms