Details of Disease

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.