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loading...| Preferred Name |
Holt-Oram Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125592 |
| code |
C125592 |
| DEFINITION |
A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs and heart abnormalities. |
| label |
Holt-Oram Syndrome |
| Preferred_Name |
Holt-Oram Syndrome |
| prefixIRI |
C125592 |
| prefLabel |
Holt-Oram Syndrome |
| Semantic_Type |
Disease or Syndrome |
| subClassOf |