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Summary Literature (0)
DOID:1933 - Rubinstein-Taybi syndrome


Disease Ontology Definition:A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.

Synonyms: Broad Thumb-Hallux syndrome, Rubinstein syndrome, proximal chromosome 16p13.3 deletion syndrome

Xenbase Genes : ep300, crebbp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019188 - Rubinstein-Taybi syndrome

OMIM:
OMIM:180849 - RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
OMIM:610543 - CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL
OMIM:613684 - RUBINSTEIN-TAYBI SYNDROME 2; RSTS2

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), chromosomal deletion syndrome (is_a), syndrome (is_a)