disease has basis in dysfunction of OCRL congenital nervous system disorder oculocerebrorenal syndrome DOID:1056 GARD:0003295 ICD10:E72.0 ICD10:E72.03 ICD9:270.8 Lowe disease Lowe oculo-cerebro-renal syndrome Lowe oculocerebrorenal syndrome Lowe syndrome MESH:D009800 MONDO:0010645 MedDRA:10051707 NCIT:C84940 OCR OCRL OMIM:309000 Ocrl1 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. Orphanet:534 SCTID:79385002 UMLS:C0028860 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 syndromic developmental defect of the eye developmental anomaly of metabolic origin syndromic neurometabolic disease with X-linked intellectual disability inherited renal tubular disease inborn disorder of amino acid absorption and transport rare renal tubular disease rare disease with glaucoma as a major feature renal disease with cataract metabolic disease with cataract