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Human Disease

Torrance type platyspondylic dysplasia

Term ID
DOID:0111508
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
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. (2)
References
Ontology
Human Disease   ( DOID:0111508 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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