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Items: 2

1.

Vitamin D-dependent rickets, type 2B

Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. Vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; 601769), and most patients have alopecia in addition to rickets. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700). [from OMIM]

MedGen UID:
411667
Concept ID:
C2748783
Disease or Syndrome
2.

Rickets of the lower limbs

MedGen UID:
331487
Concept ID:
C1833323
Finding

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