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Concept information

disease > diseases of the osteoarticular system > I-cell disease
disease > genetic disease > hereditary disease > mucolipidosis > I-cell disease
disease > metabolic diseases > mucolipidosis > I-cell disease
disease > enzymopathy > mucolipidosis > I-cell disease

Preferred term

I-cell disease  

Definition(s)

  • Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). (Wikipedia)

Broader concept(s)

Synonym(s)

  • mucolipidosis II

In other languages

URI

http://data.loterre.fr/ark:/67375/VH8-HCL3BNVF-M

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RDF/XML TURTLE JSON-LD Last modified 5/14/20