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Ontology Browser
Term:
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 I  
Thanatophoric Dysplasia, Type II  
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 the COL2A1 gene on chromosome 12q13.11. (DO)

Synonyms
Exact Synonyms: PLSD-T ;   PLSD-TL ;   PLSDT ;   Platyspondylic Chondrodysplasia, Torrance-Luton Type ;   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type ;   Platyspondylic Skeletal Dysplasia, Torrance Type ;   lethal short-limbed platyspondylic dwarfism, Torrance type ;   lethal skeletal dysplasia ;   platyspondylic dysplasia, Torrance-Luton type ;   thanatophoric dysplasia, Torrance variant
Related Synonyms: PLSDL ;   Platyspondylic Lethal Skeletal Dysplasia, Luton Type ;   thanatophoric dysplasia, Luton variant
Primary IDs: MESH:C563627
Alternate IDs: MIM:151210
Xrefs: GARD:4382 ;   ORDO:85166
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/14729840 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/448481 "DO" "DO"

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