Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
0.110 AlteredExpression disease BEFREE A syndrome has been observed in a kindred with deficient activity of hypoxanthine-guanine phosphoribosyltransferase in which affected hemizygotes have had mild mental retardation, a spastic gait, pyramidal tract signs, shortness of stature, proximally placed thumbs and clinodactyly of the fifth fingers. 3575027 1987
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
0.110 Biomarker disease HPO