Details of Disease

General Information of Disease (ID: DISOGQIB)

Disease Name Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
Synonyms pulmonary fibrosis and/or bone marrow failure, telomere-related, 6; PFBMFT6
Disease Hierarchy
DISMNLD8: Pulmonary fibrosis and/or bone marrow failure, telomere-related
DISOGQIB: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
Disease Identifiers
MONDO ID
MONDO_0030690
UMLS CUI
C5676927
OMIM ID
619767
MedGen ID
1805650

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RPA1 OT76POLP Strong Autosomal dominant [1]
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References

1 Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980.