MeSH Browser

MeSH Supplementary: Kabuki syndrome
Unique ID: C537705
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537705
Entry Term(s): Kabuki Make-Up Syndrome; Kabuki Makeup Syndrome; Kabuki make up syndrome; Niikawa-Kuroki syndrome
Heading Mapped to: *Abnormalities, Multiple; Face / abnormalities; *Hematologic Diseases; *Vestibular Diseases
Frequency: 254
Note: A congenital syndrome characterized by neurodevelopmental dysfunction, DWARFISM, a FACIES with long palpebral fissures and eversion of the lateral third of the lower eyelids, and other anatomical abnormalities. A heterozygous mutation in the KMT2D gene is associated with Kabuki Syndrome-1 (OMIM: 147920). Mutations in the KDM6A gene have been associated with Kabuki Syndrome-2 (OMIM: 300867).
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Concept UI: M0532166
Terms: Kabuki syndrome Preferred Term
Term UI T743485
Date02/24/2009
LexicalTag NON
ThesaurusID; Kabuki make up syndrome
Term UI T743486
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Niikawa-Kuroki syndrome
Term UI T743487
Date02/24/2009
LexicalTag NON
ThesaurusID; Kabuki Make-Up Syndrome
Term UI T802135
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Kabuki Makeup Syndrome
Term UI T841817
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Kabuki syndrome MeSH Supplementary Concept Data 2024