Kabuki syndrome

Term ID

DOID:0060473

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

• GARD:6810
• MESH:C537705
• NCI:C124837
• OMIM:147920
• OMIM:300867
• ORDO:2322
• SNOMEDCT_US_2023_03_01:205805008
• UMLS_CUI:C0796004

Ontology

Human Disease   ( DOID:0060473 )