ESD, esterase D, 2098

N. diseases: 48; N. variants: 2
Disease: Monosomy 13q14 syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749304
Disease: Monosomy 13q14 syndrome
Monosomy 13q14 syndrome 		0.010 AlteredExpression disease BEFREE A patient with an interstitial deletion 13q14 is described who has decreased erythrocyte esterase D activity and who has not developed a retinoblastoma. 3679214 1987