|
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, proximal chromosome 16p13.3 deletion syndrome, Rubinstein syndrome
Xenbase Genes
:
ep300,
crebbp
| MONDO:0019188 - Rubinstein-Taybi syndrome |
| MIM:180849 - RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 |
| MIM:610543 - CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL |
| MIM:613684 - RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee