Details of Disease | DrugMAP

General Information of Disease (ID: DISRVYPK)

Disease Name	Deficiency of adenosine deaminase 2
Definition	Any disease or disorder in which the cause of the disease is a mutation in the ADA2 gene.
Disease Hierarchy	DISKP5TO: Type 1 interferonopathy of childhood DIS8I9FS: Hereditary disorder of connective tissue DISRVYPK: Deficiency of adenosine deaminase 2
Disease Identifiers	MONDO ID MONDO_0100317 MESH ID C000723487 UMLS CUI C4289994 MedGen ID 927526 SNOMED CT ID 9.88E+17

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
ADA2	OTGCV24S	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.