oculocerebrorenal syndrome
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
MONDO:0002254
syndromic disease
is_a
MONDO:0005328
eye disorder
is_a
MONDO:0015962
inherited renal tubular disease
is_a
MONDO:0019216
inborn disorder of amino acid transport
is_a
Lowe disease
exact
Lowe oculo-cerebro-renal syndrome
exact
Lowe oculocerebrorenal syndrome
exact
Lowe syndrome
exact
Lowe syndrome, X-linked recessive
exact
OCR
exact
OCRL
exact
oculo-cerebro-renal dystrophy
exact
oculo-cerebro-renal syndrome
exact
oculocerebrorenal dystrophy
exact
oculocerebrorenal syndrome
exact
oculocerebrorenal syndrome of Lowe
exact
phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
exact
SPAC9G1.10c