Terminology Service for NFDI4Health
Rubinstein-Taybi syndrome
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http://purl.obolibrary.org/obo/DOID_1933
A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
Rubinstein-Taybi syndrome
Synonyms
- Broad Thumb-Hallux syndrome
- Rubinstein syndrome
- proximal chromosome 16p13.3 deletion syndrome
Subsets
DO_rare_slim, NCIthesaurus
comment
Xref MGI. OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:1933