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GENATLAS PHENOTYPE

last update : 6/10/2005

Symbol	VDHR
Location	11p15
Name	25-Hydroxyvitamin D3 deficiency
Other name(s)	pseudovitamin D3 deficiency rickets due to 25-hydroxylase deficiency
Corresponding gene	CYP2R1
Main clinical features	with vitamin D-dependent rickets, reduced level of 25-hydroxyvitamin D, low or normal calcemia and phosphatemia, elevated alkaline phosphatase activity
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	metabolism/vitamin
Type	disease

Gene product

Name	cytochrome P450, family 2, subfamily R, polypeptide 1