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disease > genetic disease > hereditary disease > Dorfman-Chanarin syndrome
disease > metabolic diseases > Dorfman-Chanarin syndrome
disease > striated muscle disease > myopathy > Dorfman-Chanarin syndrome
... > disease > skin appendages disease > skin disease > dyskeratosis > hyperkeratosis > ichtyosiform erythroderma > Dorfman-Chanarin syndrome
... > disease > skin appendages disease > skin disease > erythroderma > ichtyosiform erythroderma > Dorfman-Chanarin syndrome
disease > genetic disease > hereditary disease > storage disease > Dorfman-Chanarin syndrome
disease > enzymopathy > storage disease > Dorfman-Chanarin syndrome

Terme préférentiel

Dorfman-Chanarin syndrome  

Définition(s)

  • Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes (Jordans' anomaly), muscle, liver, fibroblasts, and other tissues. (Wikipedia)

Concept(s) générique(s)

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URI

http://data.loterre.fr/ark:/67375/VH8-L0JL9X6F-K

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020