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KBG syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.
Uniprot Description A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability.
Disease Ontology Description A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
Mondo Term and Equivalent IDs
MONDO:0007846:  KBG syndrome
GARD:0000082: 
MESH:C537015: 
Orphanet:2332: 
SCTID:711156009: 
UMLS:C0220687: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)