Details of Disease

General Information of Disease (ID: DISOXIIW)

Disease Name Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Synonyms IMD73B; immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Disease Hierarchy
DIS225UQ: T-B- severe combined immunodeficiency
DISOXIIW: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Disease Identifiers
MONDO ID
MONDO_0033554
UMLS CUI
C5436549
OMIM ID
618986
MedGen ID
1740566

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
RAC2 OTAOHFNH Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.