Ehlers-Danlos syndrome, musculocontractural type Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations. (Orphanet Rare Disease Ontology, Orphanet_2953)
External Link http://www.omim.org/entry/601776
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Genes

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

Symbol Name
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14