loading...| Preferred Name |
Rubinstein-Taybi Syndrome |
|
| Synonyms |
Broad Thumb-Hallux Syndrome |
|
| Definitions |
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). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D012415 |
|
| altLabel |
Broad Thumb-Hallux Syndrome Syndrome, Rubinstein Syndrome, Broad Thumb-Hallux Broad Thumb-Hallux Syndromes Broad Thumb Hallux Syndrome Rubinstein Taybi Syndrome Rubinstein Syndrome Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Syndromes, Broad Thumb-Hallux Syndrome, Rubinstein-Taybi |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0035934 |
|
| DC |
1 |
|
| 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). |
|
| DX |
19910101 |
|
| FX |
D008607 |
|
| HN |
91(72); was see under ABNORMALITIES, MULTIPLE 1972-90 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
91; was see under ABNORMALITIES, MULTIPLE 1972-90 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20180630 |
|
| MN |
C16.320.180.790 C16.131.621.207.850 C16.131.260.790 C10.597.606.360.700 C05.116.099.370.797 C05.660.207.850 C16.131.077.804 |
|
| notation |
D012415 |
|
| prefLabel |
Rubinstein-Taybi Syndrome |
|
| TERMUI |
T036917 T369674 T782108 T369673 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2012) GHR (2014) NLM (1972) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D008607 |