根瘤菌软骨发育不良症是英文rhizomelic chondrodysplasia punctata的中文翻译。这一疾病又叫做;RCDP;肢近端型点状软骨发育不良;肢近端型点状软骨发育异常。该病是一种基因病、遗传病。佳学基因通...
MEGDEL综合征是英文MEGDEL syndrome的中文翻译。这一疾病又叫做3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome;3-methylglutaconic aciduria with deafness, encephalopathy, and Lei...
琥珀酰辅酶A:3-酮酸辅酶A转移酶缺乏症是英文succinyl-CoA:3-ketoacid CoA transferase deficiency的中文翻译。这一疾病又叫做3-oxoacid CoA transferase deficiency ketoacidosis due to SCOT deficiency SCOT deficiency succinyl-...
琥珀酸半醛脱氢酶缺乏症是英文succinic semialdehyde dehydrogenase deficiency的中文翻译。这一疾病又叫做4-hydroxybutyric aciduria 4-hydroxybutyricaciduria Gamma-hydroxybutyric acidemia gamma-hydroxybutyric aciduria SSADH def...
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