Spondylometaphyseal Dysplasia

About the Disease
Spondyloepimetaphyseal Dysplasia, Strudwick Type, also known as spondylometaphyseal dysplasia, is related to spondylometaphyseal dysplasia, corner fracture type and spondyloepimetaphyseal dysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Strudwick Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone, spinal cord and eye, and related phenotypes are flared metaphysis and aplasia/hypoplasia involving bones of the extremities

Common Targets
AIFM1 | G2335 | INPPL1 | MBTPS1 | SLC13A1 | EXTL3 | TRPV4 | RSPRY1 | EXOC6B | ACP5 | RPL13 | KIF22 | CFAP410 | COL2A1 | GNPNAT1 | LBR | UFSP2 | SIK3 | PLCB3 | PISD

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