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Rubinstein-Taybi syndrome

Disease Summary
Associated Targets (3)
Tchem

2

Tbio

1


Explore Associated Targets
Mondo Description Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.
Disease Ontology Description An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.
Mondo Term and Equivalent IDs
MONDO:0019188:  Rubinstein-Taybi syndrome
GARD:0007593: 
MESH:D012415: 
NCIT:C75466: 
OMIMPS:180849: 
Orphanet:783: 
SCTID:45582004: 
UMLS:C0035934: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)