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ENSpondyloenchondrodysplasia with Immune Dysregulation (SPENCDI)
Alias:
Spondyloenchondrodysplasia
Spencd
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
Spencdi
Spondylometaphyseal Dysplasia with Enchondromatous Changes
Roifman Immunoskeletal Syndrome
Spondyloenchondromatosis
Spondyloenchondrodysplasia, with Immune Dysregulation
Roifman-Melamed Syndrome
Roifman-Costa Syndrome
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Spondyloenchondrodysplasia with Immune Dysregulation, also known as spondyloenchondrodysplasia, is related to metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria and bone dysplasia azouz type, and has symptoms including muscle spasticity An important gene associated with Spondyloenchondrodysplasia with Immune Dysregulation is ACP5 (Acid Phosphatase 5, Tartrate Resistant). Affiliated tissues include bone and thyroid, and related phenotypes are platyspondyly and metaphyseal dysplasia
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