Term Name:	metatropic dysplasia
Synonyms:	metatropic dwarfism
Definition:	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 the TRPV4 gene on chromosome 12q24.11.
Ontology:	Human Disease [DOID:0111514]   ( DOID:0111514 )