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bn:03312040n
Noun Concept
Categories: Syndromes affecting the eye, X-linked recessive disorders, Syndromes affecting the kidneys, Syndromes affecting the eyes, Amino acid metabolism disorders
EN
oculocerebrorenal syndrome  Lowe syndrome  Charles Upton Lowe  Lowe's Oculocerebrorenal Syndrome  Lowe's syndrome
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
Definitions
Relations
Sources
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
Human disease Wikidata
IS A
rare disease
syndrome
Amino acid transport disorder
tubulopathy
GENETIC ASSOCIATION
OCRL
HEALTH SPECIALTY
neurology
endocrinology
urology
medical genetics
obstetrics and gynaecology
Wikipedia
EN
oculocerebrorenal syndrome
Wikidata
EN
oculocerebrorenal syndrome
Wikipedia Redirections
EN
Charles Upton Lowe, Lowe's Oculocerebrorenal Syndrome, Lowe's syndrome, Lowe syndrome, Lowe’s syndrome, Oculo-cerebro-renal syndrome
Wikidata Alias
EN
Lowe disease, Lowe oculo-cerebro-renal syndrome, LOWE OCULOCEREBRORENAL SYNDROME, LOWE OCULOCEREBRORENAL SYNDROME; OCRL, Lowe syndrome, OCR, OCRL, Ocrl1, Oculo-cerebro-renal dystrophy, Oculo-cerebro-renal syndrome, Oculocerebrorenal dystrophy, oculocerebrorenal syndrome of Lowe, Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency, Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

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