Preferred Name |
Holt-Oram Syndrome |
|
Synonyms |
Holt-Oram Syndrome |
|
Definitions |
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. |
|
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 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0265264 |
|
subClassOf |
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