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General Information
ZIRC
OBO ID: DOID:0060473
Term Name: Kabuki syndrome Search Ontology:
Synonyms:
  • Kabuki make up syndrome
  • KMS
  • Niikawa-Kuroki syndrome
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. (5)
References:
Ontology: Human Disease   (DOID:0060473)
Relationships
is a type of:
OTHER Kabuki syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KDM6A Kabuki syndrome 2 300867
KMT2D Kabuki syndrome 1 147920
PHENOTYPE No data available

CITATIONS (3)