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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease pancytopenia
Comorbidity C0034069|pulmonary fibrosis
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PubMedID- 21520173 Dyskeratosis congenita, an inherited bone marrow failure syndrome associated with mucocutaneous anomalies, pulmonary fibrosis, and cirrhosis, is caused by germline mutations of genes in the telomerase complex.

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