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vitamin D-dependent rickets, type 1

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Hypocalcemic 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.
Mondo Term and Equivalent IDs
MONDO:0009924:  vitamin D-dependent rickets, type 1
MESH:C562688: 
NCIT:C131073: 
Orphanet:289157: 
SCTID:67049004: