|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. (Orphanet Rare Disease Ontology, Orphanet_285)|
|Downloads & Tools|
2 genes associated with the Ehlers-Danlos syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.