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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16533976 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of alpha-galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.