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Kabuki syndrome

Disease Summary
Associated Targets (7)
Tbio

4

Tchem

3


Explore Associated Targets
Mondo Description Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0016512:  Kabuki syndrome
GARD:0006810: 
MESH:C537705: 
NCIT:C124837: 
OMIMPS:147920: 
Orphanet:2322: 
SCTID:313426007: 
UMLS:C0796004: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)