Details of Disease

General Information of Disease (ID: DIS4TNWX)

Disease Name Diamond-Blackfan anemia 18
Synonyms DBA18; DIAMOND-BLACKFAN ANEMIA 18
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DIS4TNWX: Diamond-Blackfan anemia 18
Disease Identifiers
MONDO ID
MONDO_0032668
UMLS CUI
C5193020
OMIM ID
618310
MedGen ID
1681154

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
RPL18 OTJCH62J Moderate Autosomal dominant [1]
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References

1 Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9.