D-mannitol allergy

A drug allergy that has_allergic_trigger D-mannitol.

vitamin D-dependent rickets type 2B

A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.

osteomalacia

A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.

D-2-hydroxyglutaric aciduria 2

A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.

vitamin D-dependent rickets type 2A

A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.

cornea plana

A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D.

D-2-hydroxyglutaric aciduria 1

A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.

cataract 4 multiple types

A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.

alpha-mannosidosis

A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.

hemolytic disease of the fetus

A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.