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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease precocious puberty
Comorbidity C0206081|hyperandrogenism
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PubMedID- 22718432 In humans, ‘apparent’ cortisone reductase deficiency (acrd) and ‘true’ crd is a continuum of hyperandrogenism with premature puberty due to mutations in h6pdh and 11β-hsd1 respectively (lavery 2007, lawson et al.

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