遗传代谢性疾病  inherited metabolic diseases

遗传性代谢疾病  inherited metabolic diseases

遗传性代谢病  Hereditary metablic disease; inherited metabolic disorders

内分泌代谢病  endocrine metabolic diseases

常染色体显性遗传性病变  autosomal dominant disorder

多因子遗传性疾病  multi-factorial genetic disease

家族遗传性疾病  Familial inherited diseases

视神经疾病,遗传性  Herditary

性连锁显性遗传疾病  McCune-Albright syndrome

遗传〔性疾〕病  hereditary disease

遗传代谢病  inborn errors of metabolism; inherited metabolic disorders; inheirted metabolic disorders; inherited metabolic disease; inherited metabolic diseases

遗传代谢性肝病  inherited metabolic liver disease

遗传性肝脏代谢性疾病  inherited metabolic liver disease

遗传性疾病  genetic deafness; hereditary disease; genetic diseases; hereditaty disease; inherited diseases; Hereditary d iseases; inherited disease; genetic disease; heredopathia; genetotrophic disease; Hereditary diseases; genetic deseases; Disease; Hereditary

隐性遗传的代谢性疾病  Maroteaux-Lamy syndrome

影响中枢神经系统的遗传性代谢障碍  lesch-nyhan syndrome

自体隐性遗传疾病  autosomal recessive disease

代谢性疾病  metabolic diseases; metabolic disorders; metabolic disease; Chronic metabolic disease

先天性代谢疾病筛检  newborn metabolic screen