|OBO ID: DOID:0111508|
|Term Name:||Torrance type platyspondylic dysplasia||Search 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 COL2A1 on chromosome 12q13.11. (2)|
|Ontology:||Human Disease (DOID:0111508)|
|is a type of:||
OTHER Torrance type platyspondylic dysplasia PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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