eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | osteoporosis-pseudoglioma syndrome |
| Comorbidity | C0456909|blindness |
| Sentences | 1 |
| PubMedID- 20921133 | Loss-of-function mutations in lrp5 cause osteoporosis pseudoglioma (oppg), a disease associated with blindness at birth and bone loss appearing in the first 2 yr of life (gong et al., 2001; boyden et al., 2002). |
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