loading...| Preferred Name |
Rubinstein-Taybi syndrome |
| Synonyms |
Broad Thumb-Hallux 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 GARD:7593 ICD10CM:Q87.2 ORDO:783 OMIM:180849 SNOMEDCT_US_2022_09_01:157032007 UMLS_CUI:C0035934 MESH:D012415 NCI:C75466 OMIM:613684 |
| definition |
A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. |
| has exact synonym |
Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion 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 |
| subClassOf |
http://purl.obolibrary.org/obo/DOID_225 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75466 | National Cancer Institute Thesaurus | LOOM | |
| http://purl.bioontology.org/ontology/MESH/D012415 | Medical Subject Headings | LOOM |