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Summary Literature (2)
DOID:0060473 - Kabuki syndrome


Disease Ontology Definition:A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.

Synonyms: KMS, Kabuki make up syndrome, Niikawa-Kuroki syndrome

Referenced OMIM:
OMIM:147920 - KABUKI SYNDROME 1; KABUK1
OMIM:300867 - KABUKI SYNDROME 2; KABUK2

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : kmt2d, kdm6a

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): syndrome (is_a)


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