FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Kabuki syndrome ID (Ontology) DOID:0060473 (Human Disease)
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.
Also Known As "Kabuki make up syndrome" ; "KMS" ; "Niikawa-Kuroki syndrome"
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 Genes
 Kabuki syndrome       3
 for disease ribbon | Kabuki syndrome       3
 model of | Kabuki syndrome       3
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   |__syndrome
       |__Kabuki syndrome  3 rec.
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Synonyms
  • "Kabuki make up syndrome" EXACT
    "KMS" EXACT OMO:0003012
    "Niikawa-Kuroki syndrome" EXACT
Secondary IDs
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GARD:6810
MESH:C537705
MIM:147920
MIM:300867
NCI:C124837
ORDO:2322
SNOMEDCT_US_2023_03_01:205805008
UMLS_CUI:C0796004