OBO ID: DOID:0111508
Term Name: Torrance type platyspondylic dysplasia Search Ontology:
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
is a type of:
OTHER Torrance type platyspondylic dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL2A1 Platyspondylic skeletal dysplasia, Torrance type 151210
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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