| Disease ID | Source | Name | Description |
| 613989 | OMIM | Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) | 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. |
| 613989 | OMIM | Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) | 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. |
| 614742 | OMIM | Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) | A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. The disease is caused by variants affecting the gene represented in this entry. |
| 178500 | OMIM | Pulmonary fibrosis, idiopathic (IPF) | A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| 609135 | OMIM | Aplastic anemia (AA) | A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| 615134 | OMIM | Melanoma, cutaneous malignant 9 (CMM9) | A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. Disease susceptibility is associated with variants affecting the gene represented in this entry. |