Details of Disease

General Information of Disease (ID: DISK0CPA)

Disease Name Diamond-Blackfan anemia 7
Synonyms
DBA7; Diamond-Blackfan Anaemia type 7; Diamond-Blackfan anaemia caused by mutation in RPL11; RPL11 Diamond-Blackfan anemia; RPL11 Diamond-Blackfan anaemia; Diamond-Blackfan anemia 7; Diamond-Blackfan Anemia type 7; Diamond-Blackfan anemia caused by mutation in RPL11
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DISK0CPA: Diamond-Blackfan anemia 7
Disease Identifiers
MONDO ID
MONDO_0012938
MESH ID
C567254
UMLS CUI
C2675512
OMIM ID
612562
MedGen ID
436451

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
RPL11 OT3VZ6OE Strong Autosomal dominant [1]
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References

1 Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.