loading...| Preferred Name |
Rubinstein-Taybi Syndrome [Disease/Finding] |
|
| Synonyms |
Broad Thumb-Hallux Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002657 |
|
| altLabel |
Broad Thumb-Hallux Syndrome Rubinstein Syndrome Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Rubinstein-Taybi Syndrome |
|
| cui |
C0035934 |
|
| MESH DEFINITION |
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). |
|
| MESH DUI |
D012415 |
|
| MeSH name |
Rubinstein-Taybi Syndrome |
|
| MESH UI |
M0019298 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002657 |
|
| NUI |
N0000002657 |
|
| prefLabel |
Rubinstein-Taybi Syndrome [Disease/Finding] |
|
| SNOMED CID |
45582004 |
|
| tui |
T047 |
|
| subClassOf |