Details of Disease

General Information of Disease (ID: DISWCUX9)

Disease Name Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Synonyms PLTEID; immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia; platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Disease Hierarchy
DISYKSRF: Genetic disease
DISWCUX9: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Disease Identifiers
MONDO ID
MONDO_0060583
UMLS CUI
C4540232
OMIM ID
617718
MedGen ID
1618052

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
ARPC1B OTYE3DN2 Definitive Autosomal recessive [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.