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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,
Xenbase Genes
:
rap1b,
kmt2d,
kdm6a,
rap1a
| MONDO:0016512 - Kabuki syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)