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bn:03312040n
Noun Concept
SYL
No term available
EN
Oculocerebrorenal 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
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Sources
IS A
EN
rare disease
EN
syndrome
EN
Amino acid transport disorder
EN
tubulopathy
GENETIC ASSOCIATION
EN
OCRL
HEALTH SPECIALTY
EN
neurology
EN
endocrinology
EN
urology
EN
medical genetics
EN
obstetrics and gynaecology

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