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pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0013878:  pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
EFO:1001501: 
UMLS:C3553617: