| Disease ID | Source | Name | Description |
| 618625 | OMIM | Rothmund-Thomson syndrome 1 (RTS1) | An autosomal recessive disorder characterized by sparse hair, bilateral juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dystrophic and thin nails, and genital, skeletal and dental abnormalities. RTS1 is not associated with an increased risk of cancer. The disease is caused by variants affecting the gene represented in this entry. |