Term Name:	Torrance type platyspondylic dysplasia
Synonyms:	lethal short-limbed platyspondylic dwarfism, Torrance type, platyspondylic dysplasia, Torrance-Luton type, platyspondylic lethal skeletal dysplasia, Torrance type, PLSD-T, PLSDT, thanatophoric dysplasia, Torrance variant
Definition:	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 the COL2A1 gene on chromosome 12q13.11.
Ontology:	Human Disease [DOID:0111508]   ( DOID:0111508 )