Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia
0.010 GeneticVariation disease BEFREE A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). 9321770 1997