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vitamin D-dependent rickets, type 2A

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.
Uniprot Description A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets.
Mondo Term and Equivalent IDs
MONDO:0010186:  vitamin D-dependent rickets, type 2A
NCIT:C131075: 
SCTID:237894002: 
UMLS:C0342646: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found