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中文Vitamin D-Dependent Rickets, Type 2a (VDDR2A)
Alias:
Hvdrr
Hypocalcemic Vitamin D-Resistant Rickets
Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to 1,25-Dihydroxycholecalciferol
Generalized Resistance to 1,25-Dihydroxyvitamin D
Rickets, Hereditary Vitamin D-Resistant
Rickets, Vitamin D-Resistant, Type Iia
Vitamin D-Dependent Rickets Type 2a
Rickets-Alopecia Syndrome
Pddr Iia
Vddr2a
Vitamin D-Dependent Rickets, Type 2a, with or Without Alopecia
Vitamin D-Dependent Rickets Type 2a with or Without Alopecia
Vitamin D-Dependent Rickets Type Ii with Alopecia
Hypophosphatemic Rickets, X-Linked Dominant
Hereditary Vitamin D-Resistant Rickets
Rickets Hereditary Vitamin D-Resistant
Pseudovitamin D-Deficiency, Type Iia
Vitamin D-Dependent Rickets, Type Ii
Generalized 1,25-Dihydroxyvitamin D
Vitamin D-Dependent Rickets Type Ii
Vitamin D-Resistant Rickets Type Ii
Pseudovitamin D-Deficiency Type Iia
Vitamin D-Dependent Rickets, Type 2
Familial Hypophosphatemic Rickets
Rickets Vitamin D-Dependent 2a
Type Iia Rickets
Vddr Ii
Vdrr Ii
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维生素D依赖性软骨病2a型，也称为hvdrr，与低钙性维生素D依赖性软骨病和肾钙化有关，其症状包括肌肉无力、骨痛和站立困难。与维生素D依赖性软骨病2a型有关的重要基因是VDR（维生素D受体），其相关通路/超级通路包括类固醇代谢和维生素D受体通路。在该疾病的背景下，已提到的药物有胆骨化醇和单克隆抗体。附属组织包括骨和皮质，相关表型为低磷血症和甲状旁腺功能亢进。
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MALACARDS
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