Preferred Name |
Rubinstein-Taybi syndrome |
|
Synonyms |
proximal chromosome 16p13.3 deletion syndrome |
|
Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. |
|
ID |
http://purl.obolibrary.org/obo/DOID_1933 |
|
comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
OMIM:610543 UMLS_CUI:C0035934 SNOMEDCT_US_2023_03_01:157032007 ICD10CM:Q87.2 OMIM:180849 OMIM:613684 MESH:D012415 GARD:7593 NCI:C75466 ORDO:783 |
|
has exact synonym |
proximal chromosome 16p13.3 deletion syndrome Broad Thumb-Hallux syndrome Rubinstein syndrome |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:1933 |
|
in_subset | ||
label |
Rubinstein-Taybi syndrome |
|
notation |
DOID:1933 |
|
prefLabel |
Rubinstein-Taybi syndrome |
|
textual definition |
A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. |
|
subClassOf |
http://purl.obolibrary.org/obo/DOID_0050736 |