| Disease ID | Source | Name | Description |
| 613990 | OMIM | Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) | A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. The disease is caused by variants affecting the gene represented in this entry. |
| 268130 | OMIM | Dyskeratosis congenita, autosomal dominant, 5 (DKCA5) | A disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation. The disease is caused by variants affecting the gene represented in this entry. |