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Echinobase
Summary Literature (0)
DOID:13359 - Ehlers-Danlos syndrome

Disease Ontology Definition:A collagen 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: Cutis hyperelastica, elastic skin,

Echinobase Genes : plod1


OMIM:
MIM:225400 - ehlers-danlos syndrome, type vi; eds6

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): collagen disease (is_a)