You are using an outdated browser. Please upgrade your browser to improve your experience.

Ehlers-Danlos syndrome

Disease Summary
Associated Targets (76)
Tbio

60

Tchem

12

Tclin

4


GARD Rare
Mondo Description The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0020066:  Ehlers-Danlos syndrome
COHD:79145: 
GARD:0006322: 
ICD10:Q79.6: 
ICD9:756.83: 
MESH:D004535: 
NCIT:C34568: 
OMIMPS:130000: 
Orphanet:98249: 
SCTID:398114001: 
UMLS:C0013720: