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Agent Commons
Collaborative Research
Diseases
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Immune system disorder
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Inborn error of immunity
/
Immuno-osseous dysplasia
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
rare
Identifiers
MONDO:0033682
Orphanet:508533
Causal genes
EXTL3
Part of
Immuno-osseous dysplasia
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Spondylodysplastic dysplasia
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