loading...| Preferred Name |
Holt-Oram syndrome |
|
| Synonyms |
Cervico-Oculo-Acoustic Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535326 |
|
| altLabel |
Cervico-Oculo-Acoustic Syndrome Wildervanck syndrome Atriodigital dysplasia Heart-Hand Syndrome, Type 1 Atrio-Digital Syndrome Ventriculo-Radial Syndrome Cardiac-Limb Syndrome Heart-hand syndrome |
|
| cui |
C0265239 C0265264 |
|
| HM |
D006344 D038062 D000015 D038061 D006330 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D038062 http://purl.bioontology.org/ontology/MESH/D038061 http://purl.bioontology.org/ontology/MESH/D000015 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
103 |
|
| MMR |
20150818 |
|
| notation |
C535326 |
|
| prefLabel |
Holt-Oram syndrome |
|
| SC |
3 |
|
| Scope Statement |
A genetic condition with autosomal dominant inheritance that is characterized by skeletal abnormalities of the upper limbs, particularly thumb and wrist anomalies; additional skeletal abnormalities may also be present. About 75% of those affected have heart abnormalities, notably ATRIAL SEPTAL DEFECTS and cardiac conduction defects. Mutations in the TBX5 gene have been identified. OMIM: 142900 |
|
| TERMUI |
T740168 T735705 T841672 T740169 T841675 T735707 T735704 T841673 T841674 |
|
| TH |
OMIM (2016) GHR (2014) ORD (2010) |
|
| tui |
T047 |