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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease fabry disease
Comorbidity C0002986|fabry disease
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PubMedID- 21047542 fabry disease, due to the deficiency of alpha-galactosidase a (alpha-gal), causes lysosomal accumulation of globotriaosylceramide (gb3) in multiple tissues and prominently in the vascular endothelium.

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