Comprehensive, easy-to-understand information about this condition
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TNF receptor 1-associated periodic fever syndrome
MONDO:0007727
familial apolipoprotein C-II deficiency
MONDO:0008810
sitosterolemia
MONDO:0008863
cerebrotendinous xanthomatosis
MONDO:0008948
rhizomelic chondrodysplasia punctata type 1
MONDO:0008972
apparent mineralocorticoid excess
MONDO:0009025