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Summary Literature (0)
DOID:0111508 - Torrance type platyspondylic dysplasia

Disease Ontology 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.

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

Xenbase Genes : col2a1


MIM:
MIM:151210 - PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteochondrodysplasia (is_a)