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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: PLSD-T, PLSDT, lethal short-limbed platyspondylic dwarfism, Torrance type, platyspondylic dysplasia, Torrance-Luton type, platyspondylic lethal skeletal dysplasia, Torrance type, thanatophoric dysplasia, Torrance variant,
Xenbase Genes
:
col2a1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteochondrodysplasia (is_a)