Rubinstein-Taybi syndrome

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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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:180849 - rubinstein-taybi syndrome 1; rsts1

MIM:180849 - rubinstein-taybi syndrome 1; rsts1

Other Model Organisms: Alliance, 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)