Hypocalcemic vitamin D-dependent rickets

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Hypocalcemic vitamin D-dependent rickets

Synonyms: 1-alpha-hydroxylase deficiency | PDDRI | Pseudovitamin D-deficient rickets | VDDI | VDDR-I | Vitamin D dependent rickets type I | Vitamin D-dependency type I

A rare genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations and moderate hypophosphatemia.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023

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Hypocalcemic vitamin D-dependent rickets?

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