spondyloenchondrodysplasia

名词 n.
中文释义

英文释义

名词 n.
  1. A rare genetic disorder characterized by abnormal development of the spine and cartilage/bone, leading to skeletal abnormalities such as short stature, spinal malformations, and metaphyseal bone changes; it may also be associated with immune system dysfunction, including increased susceptibility to autoimmune disease. uncountable
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