eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lowe syndrome |
| Comorbidity | C0086543|cataracts |
| Sentences | 2 |
| PubMedID- 21901156 | Mutations in the inositol polyphosphate 5-phosphatase ocrl1 cause lowe syndrome, leading to cataracts, mental retardation and renal failure. |
| PubMedID- 21448331 | cataracts are a hallmark of lowe syndrome and are always present at birth. |
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