OBO ID: DOID:1933
Term Name: Rubinstein-Taybi syndrome Search Ontology:
Synonyms:
  • Broad Thumb-Hallux syndrome
  • proximal chromosome 16p13.3 deletion syndrome
  • Rubinstein syndrome
Definition: A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. (2)
References:
Ontology: Human Disease   (DOID:1933)
OTHER Rubinstein-Taybi syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CREBBP Rubinstein-Taybi syndrome 1 180849
EP300 Rubinstein-Taybi syndrome 2 613684
PHENOTYPE No data available

CITATIONS (1)