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Nephropathic infantile cystinosis
rareNephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
- Identifiers
- MONDO:0018467 Orphanet:411629
- Also known as
- CTNS · cystinosis, infantile nephropathic
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