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Гіпокальціємічний рахіт

ORPHA:289103· Hypocalcemic rickets

Визначення(English summary)

A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment.