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Keyword Ehlers-Danlos syndrome

UniProtKB (13) rdf/xml obo
DefinitionProtein which, if defective, causes Ehlers-Danlos syndrome (EDS), a genetically and phenotypically heterogeneous group of connective-tissue disorders. It affects primarily the skin, ligaments, joints, and blood vessels. Typical features include skin hyperextensibility, joint hypermobility, easy bruisability, friability of tissues with bleeding and poor wound healing. Inheritance can be autosomal dominant, autosomal recessive, or X-linked recessive.
Synonyms EDS
CategoryDisease
GraphicalEhlers-Danlos syndromeDisease