Search Ontology:
Human Disease
Kabuki syndrome
- Term ID
- DOID:0060473
- Synonyms
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- 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
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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
- Ontology
- Human Disease ( DOID:0060473 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models