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disease > urinary system disease > kidney disease > tubulopathy > Lowe syndrome
disease > genetic disease > hereditary disease > Lowe syndrome
disease > symptom > muscular hypotonia > Lowe syndrome
disease > symptom > muscle tonus alteration > muscular hypotonia > Lowe syndrome
disease > striated muscle disease > muscle tonus alteration > muscular hypotonia > Lowe syndrome
... > disease > nervous system diseases > neurological disorder > muscle tonus alteration > muscular hypotonia > Lowe syndrome
disease > enzymopathy > Lowe syndrome
disease > developmental disorder > mental retardation > Lowe syndrome
disease > disability > mental retardation > Lowe syndrome
... > disease > eye disease > anterior segment disease > lens disease > cataract > Lowe syndrome

Preferred term

Lowe syndrome  

Definition

  • Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria, and low-molecular-weight proteinuria. (Wikipedia)

Broader concept

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URI

http://data.loterre.fr/ark:/67375/VH8-WQHMLFJJ-0

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