Details of Disease

General Information of Disease (ID: DIS65OJJ)

Disease Name Diamond-Blackfan anemia 3
Synonyms
anaemia Diamond-Blackfan 3; DBA3; anemia Diamond-Blackfan 3; Diamond-Blackfan anaemia caused by mutation in RPS24; Diamond-Blackfan anemia caused by mutation in RPS24; RPS24 Diamond-Blackfan anaemia; Diamond-Blackfan anemia 3; RPS24 Diamond-Blackfan anemia; Diamond-Blackfan Anaemia type 3; Diamond-Blackfan Anemia type 3
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DIS65OJJ: Diamond-Blackfan anemia 3
Disease Identifiers
MONDO ID
MONDO_0012529
MESH ID
C536355
UMLS CUI
C1857719
OMIM ID
610629
MedGen ID
387892

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
RPS24 OTSNKIL5 Definitive Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.