Details of Disease | DrugMAP

General Information of Disease (ID: DISJ0FPQ)

Disease Name	Immunodeficiency 14b, autosomal recessive
Synonyms	IMD14B
Disease Hierarchy	DIS093I0: Immunodeficiency DISJ0FPQ: Immunodeficiency 14b, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0023655 UMLS CUI C5543301 OMIM ID 619281 MedGen ID 1787468

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PIK3CD	TTGBPJE	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIK3CD	OTOMP6TH	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.