Musculoskeletal Phenotypes

This collection consists of phenotypes for patients with diseases affecting bones, muscles, joints, and connective tissues, and include a range of conditions from congenital anomalies (e.g., scoliosis) to degenerative (e.g., osteoarthritis) or inflammatory disorders (e.g., juvenile dermatomyositis). Phenotype definitions often rely on diagnosis codes, imaging procedures (e.g., X-ray, MRI), surgical interventions, physical therapy utilization, and specialty referrals. Laboratory markers of inflammation may also be relevant. Example phenotypes may include “Legg-Calvé-Perthes Disease,” typically diagnosed in young children via imaging and orthopedic assessment, or “Scoliosis,” identified through spinal curvature measurements and orthopedic follow-up.