DISEASES

Disease-gene associations mined from literature

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