Search Ontology:
Human Disease

Rubinstein-Taybi syndrome

Term ID
DOID:1933
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. (3)
References
Ontology
Human Disease   ( DOID:1933 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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