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Ontology Browser

Term:
Torrance type platyspondylic dysplasia (DOID:0111508)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Kozlowski Warren Fisher Syndrome 
Larsen-Like Syndrome, Lethal Type 
Short Limb Dwarf Lethal Colavita Kozlowski Type 
Skeletal Dysplasia, San Diego Type 
Thanatophoric Dysplasia Glasgow Variant 
Thanatophoric Dysplasia, Type 2  
Thanatophoric Dysplasia, Type I  
Torrance type platyspondylic dysplasia  
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. (DO)

Synonyms
Exact Synonyms: Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type ;   Lethal Skeletal Dysplasia ;   PLSD-T ;   PLSD-TL ;   PLSDT ;   Platyspondylic Chondrodysplasia, Torrance-Luton Type ;   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type ;   Platyspondylic Skeletal Dysplasia, Torrance Type ;   Thanatophoric Dysplasia, Torrance Variant ;   platyspondylic dysplasia, Torrance-Luton type
Related Synonyms: PLSDL ;   Platyspondylic Lethal Skeletal Dysplasia, Luton Type ;   Thanatophoric Dysplasia, Luton Variant
Primary IDs: MESH:C563627
Alternate IDs: OMIM:151210
Xrefs: GARD:4382 ;   ORDO:85166
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/14729840, https://www.ncbi.nlm.nih.gov/pubmed/448481

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.