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bn:03312040n
Noun Concept
NL
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
Relations
Sources
IS A
zeldzame ziekte
syndroom
EN
Amino acid transport disorder
EN
tubulopathy
GENETIC ASSOCIATION
OCRL
HEALTH SPECIALTY
neurologie
endocrinologie
Urologie
medische genetica
verloskundige gynaecologie

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