Details of Disease | DrugMAP

General Information of Disease (ID: DISHI24Y)

Disease Name	Kabuki syndrome 2
Synonyms	KABUKI syndrome 2; KABUK2; Kabuki syndrome 2, X-linked dominant; Kabuki syndrome type 2; Kabuki syndrome 2
Disease Hierarchy	DISZN97H: Kabuki syndrome DISHI24Y: Kabuki syndrome 2
Disease Identifiers	MONDO ID MONDO_0010465 UMLS CUI C3275495 OMIM ID 300867 MedGen ID 477126

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
KDM6A	OTZM3MJJ	Definitive	X-linked	[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.