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 SNOMEDCT_US_2020_03_01:157032007 UMLS_CUI:C0035934 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_obo_namespace |
disease_ontology |
|
id |
DOID:1933 |
|
imported from | ||
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 |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format
References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.