|
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: Kabuki make up syndrome, KMS, Niikawa-Kuroki syndrome
Xenbase Genes
:
rap1b,
kmt2d,
kdm6a,
rap1a
| MONDO:0016512 - lumen of duodenum |
| MIM:147920 - KABUKI SYNDROME 1; KABUK1 |
| MIM:300867 - KABUKI SYNDROME 2; KABUK2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)