Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract
0.010 Biomarker disease BEFREE Here, we describe a newly recognized inborn error due to the deficiency of P5CS in two siblings with progressive neurodegeneration, joint laxity, skin hyperelasticity and bilateral subcapsular cataracts. 11092761 2000