has material basis in germline mutation in COL2A1 platyspondylic dysplasia, Torrance type https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/platyspondylic_lethal_skeletal_dysplasia_torrance_type_2 GARD:0004382 MONDO:0007895 Platyspondylic lethal skeletal dysplasia, Torrance type DOID:0111508 thanatophoric dysplasia Torrance variant lethal short-limbed Platyspondylic dwarfism Torrance type MESH:C563627 Orphanet:85166 OMIM:151210 PLSDT UMLS:C1835437 PLSD-T icd11.foundation:263213426 NANDO:2201347 platyspondylic skeletal dysplasia, Torrance type Platyspondylic dysplasia, Torrance-Luton type MEDGEN:331974 Platyspondylic lethal skeletal dysplasia Torrance type platyspondylic dysplasia, Torrance type spondylodysplastic dysplasia type 2 collagenopathy