Prev Term: ocular toxoplasmosis
Next Term: oculocerebrorenal syndrome of Lowe
oculocerebrorenal syndrome
Used for:
cerebrooculorenal syndrome
Used for:
Lowe syndrome
Used for:
oculocerebrorenal syndrome of Lowe
Broader Terms:
inborn renal tubular transport disorder
Broader Terms:
mental retardation
Broader Terms:
syndrome
Related Terms:
sex linked trait
Scope Note:
sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase.
Term Number:
1849-1861
Send your comments to: Melody Lowe