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disease > genetic disease > hereditary disease > aminoacid disorder > cystinosis
disease > enzymopathy > aminoacid disorder > cystinosis
disease > genetic disease > hereditary disease > storage disease > cystinosis
disease > enzymopathy > storage disease > cystinosis
disease > genetic disease > hereditary disease > lysosomal storage disease > cystinosis
disease > metabolic diseases > lysosomal storage disease > cystinosis
disease > enzymopathy > lysosomal storage disease > cystinosis

Preferred term

cystinosis  

Definition

  • Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-CLBZF9F6-1

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