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Disease Ontology Browser
Rubinstein-Taybi syndrome (DOID:1933)
Alliance: disease page
Synonyms: Broad Thumb-Hallux syndrome; proximal chromosome 16p13.3 deletion syndrome; Rubinstein syndrome
Alt IDs: OMIM:180849, OMIM:610543, OMIM:613684, ICD10CM:Q87.2, MESH:D012415, NCI:C75466, ORDO:783, UMLS_CUI:C0035934
Definition: An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.

Disease References using Mouse Models (4)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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