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| Term | Torrance type platyspondylic dysplasia | ID (Ontology) | DOID:0111508 (Human Disease) |
| 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. | ||
| Also Known As | "lethal short-limbed platyspondylic dwarfism, Torrance type" ; "platyspondylic dysplasia, Torrance-Luton type" ; "platyspondylic lethal skeletal dysplasia, Torrance type" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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bone development disease__ cartilage disease_________| osteochondrodysplasia |__Torrance type platyspondylic dysplasia |
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| Is a | osteochondrodysplasia | ||
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External Crossreferences & Linkouts
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GARD:4382 MESH:C563627 MIM:151210 ORDO:85166 UMLS_CUI:C1835437 |
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