Human genes for Torrance type platyspondylic dysplasia
Torrance type platyspondylic dysplasia [DOID:0111508]
An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
Synonyms: Torrance type platyspondylic dysplasia, DOID:0111508, Torrance type platyspondylic dysplasias, lethal short-limbed platyspondylic dwarfism, Torrance type, platyspondylic dysplasia, Torrance-Luton type ...