DOID:1933 - Rubinstein-Taybi syndrome
Disease Ontology Definition: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.
Synonyms: Broad Thumb-Hallux syndrome, Rubinstein syndrome, proximal chromosome 16p13.3 deletion syndrome
Echinobase Genes :
|OMIM:180849 - rubinstein-taybi syndrome 1; rsts1|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)