eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microphthalmia |
| Comorbidity | C0035333|retinitis |
| Sentences | 1 |
| PubMedID- 25357075 | Mutations in the membrane frizzled-related protein (mfrp/mfrp) gene, specifically expressed in the retinal pigment epithelium (rpe) and ciliary body, cause nanophthalmia or posterior microphthalmia with retinitis pigmentosa in humans, and photoreceptor degeneration in mice. |
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