Human genes for Ehlers-Danlos syndrome
Ehlers-Danlos syndrome [DOID:13359]
A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
Synonyms: Ehlers-Danlos syndrome, DOID:13359, EhlersDanlos syndrome, Ehlers-Danlos disease, Ehlers-Danlos disorder ...