C001 phenome
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377790 biological anomaly
definition
An alteration of the normal values of biological products. Example : hypertransferrinemia.
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1035 Beta-mercaptolactate cysteine disulfiduria
168612 Congenital deficiency in alpha-fetoprotein
168615 Hereditary persistence of alpha-fetoprotein
206599 Isolated asymptomatic elevation of creatine phosphokinase
254704 Genetic hyperferritinemia without iron overload
280183 Methylmalonic aciduria due to transcobalamin receptor defect
440731 L-ferritin deficiency
447795 Lipoyl transferase 2 deficiency