Torrance Type Platyspondylic Lethal Skeletal Dysplasia

About the Disease
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type, also known as plsd-t, is related to spondyloperipheral dysplasia and thanatophoric dysplasia, type i. An important gene associated with Platyspondylic Lethal Skeletal Dysplasia, Torrance Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Extracellular matrix organization and PI3K-Akt signaling pathway. Affiliated tissues include bone and endothelial, and related phenotypes are skeletal dysplasia and short thorax

Common Targets
COL2A1

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