Details of Disease

General Information of Disease (ID: DISTM4QL)

Disease Name Immunodeficiency 11b with atopic dermatitis
Synonyms immunodeficiency 11B with ATOPIC dermatitis; IMD11B; atopic dermatitis, elevated IgE, and eosinophilia
Disease Hierarchy
DIS093I0: Immunodeficiency
DISTM4QL: Immunodeficiency 11b with atopic dermatitis
Disease Identifiers
MONDO ID
MONDO_0054697
UMLS CUI
C4539957
OMIM ID
617638
MedGen ID
1627819

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
CARD11 OTRCTLYC Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.