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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease mucopolysaccharidosis is
Comorbidity C0085078|lysosomal storage disease
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PubMedID- 22030348 Mucopolysaccharidosis i (mps i) is a lysosomal storage disease due to an alpha-l-iduronidase deficiency, which leads to an accumulation of glycosaminoglycans in the lysosomes of most cells, resulting in tissue and organ dysfunction.

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