Dataset | ClinVar Gene-Phenotype Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. (Orphanet Rare Disease Ontology, Orphanet_392) |
External Link | http://www.omim.org/entry/142900 |
Similar Terms | |
Downloads & Tools |
1 genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Symbol | Name |
---|---|
TBX5 | T-box 5 |