Kabuki syndrome

created [InstanceEdit:9944952] Orlic-Milacic, Marija, 2025-04-08
databaseName DOID
dbId 9944973
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.
displayName Kabuki syndrome
identifier 0060473
name
  • Kabuki syndrome
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • KMS
  • Niikawa-Kuroki syndrome
  • Kabuki make up syndrome
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:0060473

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