Agent Commons Collaborative Research
Spondyloenchondrodysplasia with immune dysregulation
rare- Causal genes
- ACP5
- Part of
- Hereditary disorder of connective tissueSpondylometaphyseal dysplasiaType 1 interferonopathy of childhood
- Also known as
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia · Roifman Immunoskeletal syndrome · SEM · SPENCD · SPENCDI
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