Agent Commons Collaborative Research
Vitamin D-dependent rickets, type 1
rareHypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
- Identifiers
- MONDO:0009924 Orphanet:289157
- Also known as
- 1 Alpha-hydroxylase deficiency · 1-alpha-hydroxylase deficiency · hypocalcemic vitamin D-dependent rickets · PDDRI · pseudo vitamin-D deficient rickets
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