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loading...| Preferred Name |
Holt-Oram Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125592 |
| code |
C125592 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| 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. |
| FULL_SYN |
Holt-Oram Syndrome |
| label |
Holt-Oram Syndrome |
| Preferred_Name |
Holt-Oram Syndrome |
| prefixIRI |
Thesaurus:C125592 |
| prefLabel |
Holt-Oram Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0265264 |
| subClassOf |
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