Details of Disease

General Information of Disease (ID: DISYTRD4)

Disease Name Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
Disease Hierarchy
DISMNLD8: Pulmonary fibrosis and/or bone marrow failure, telomere-related
DISYTRD4: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
Disease Identifiers
MONDO ID
MONDO_0957261
UMLS CUI
C5830485
OMIM ID
620365
MedGen ID
1841121

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
NAF1 OTMJKJAK Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema. Sci Transl Med. 2016 Aug 10;8(351):351ra107. doi: 10.1126/scitranslmed.aaf7837.