| Disease ID | Source | Name | Description |
| 618674 | OMIM | Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 (PFBMFT5) | 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. PFBMFT5 inheritance is autosomal dominant. The disease may be caused by variants affecting the gene represented in this entry. |