Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 Biomarker disease BEFREE Chromosome studies performed on lymphocyte culture of a baby with specific dysmorphism and congenital anomalies suggestive of trisomy 21 revealed a mosaicism: 46,XY,rea(21q21q) [25]/47,XY,rea(21q21q),+mar1[25]. 9599644 1998