Ehlers-Danlos syndrome, type 3 Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/130020
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Genes

2 genes associated with the Ehlers-Danlos syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
COL3A1 collagen, type III, alpha 1
TNXB tenascin XB