Mondo Description Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.
Uniprot Description An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations.
Mondo Term and Equivalent IDs
MONDO:0012217: Bruck syndrome 2