loading...| Preferred Name |
Holt-Oram syndrome |
| Synonyms |
Atrio-Digital Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C535326 |
| altLabel |
Atrio-Digital Syndrome Wildervanck syndrome Cardiac-Limb Syndrome Heart-Hand Syndrome, Type 1 Cervico-Oculo-Acoustic Syndrome Ventriculo-Radial Syndrome Atriodigital dysplasia Heart-hand syndrome |
| cui |
C0265239 C0265264 |
| HM |
D006344 D006330 D038062 D000015 D038061 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D006344 http://purl.bioontology.org/ontology/MESH/D038061 http://purl.bioontology.org/ontology/MESH/D006330 |
| MDA |
20100825 |
| MeSH Frequency |
70 |
| 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 |
T841673 T841672 T735707 T735705 T735704 T841675 T740169 T740168 T841674 |
| TH |
ORD (2010) OMIM (2016) GHR (2014) |
| tui |
T047 |