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Ehlers-Danlos syndrome

Disease Summary
Associated Targets (76)
Tbio

60

Tchem

13

Tclin

3


Explore Associated Targets
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: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

5032

Tdark

1219

Tchem

988

Tclin

348

Tbio

3563

Tchem

726

Tdark

516

Tclin

395

Tbio

2753

Tchem

534

Tdark

444

Tclin

191

Children
Target Novelty (Tin-x)