Details of Disease | DrugMAP

General Information of Disease (ID: DISP9CBE)

Disease Name	DOCK2 deficiency
Synonyms	IMD40; immunodeficiency 40; immunodeficiency type 40
Disease Hierarchy	DIS093I0: Immunodeficiency DISP9CBE: DOCK2 deficiency
Disease Identifiers	MONDO ID MONDO_0014637 UMLS CUI C4225328 OMIM ID 616433 MedGen ID 901370 Orphanet ID 447737 SNOMED CT ID 1197479002

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
DOCK2	OTZTS3PA	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.