An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
Ewing sarcoma of bone
MONDO:0002625
hereditary multiple osteochondromas
MONDO:0005508
acroosteolysis dominant type
MONDO:0007057
diaphyseal medullary stenosis-bone malignancy syndrome
MONDO:0007205
cherubism
MONDO:0007315
chondrocalcinosis 2
MONDO:0007319