Ehlers-Danlos syndrome

Term ID

DOID:13359

Synonyms

Cutis hyperelastica
elastic skin

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. (7)

References

GARD:6322
ICD10CM:Q79.6
ICD9CM:756.83
MESH:D004535
MIM:PS130000
NCI:C34568
SNOMEDCT_US_2023_03_01:268352002
UMLS_CUI:C0013720

Ontology

Human Disease ( DOID:13359 )

Relationships

is a type of: collagen disease

collagen disease Show first 5 Terms
has subtype: autosomal recessive type IV Ehlers-Danlos syndrome brittle cornea syndrome 1 brittle cornea syndrome 2 Ehlers-Danlos syndrome arthrochalasia type 1 Ehlers-Danlos syndrome arthrochalasia type 2 ... Show All 22 Terms

autosomal recessive type IV Ehlers-Danlos syndrome brittle cornea syndrome 1 brittle cornea syndrome 2 Ehlers-Danlos syndrome arthrochalasia type 1 Ehlers-Danlos syndrome arthrochalasia type 2 Ehlers-Danlos syndrome cardiac valvular type Ehlers-Danlos syndrome classic type 1 Ehlers-Danlos syndrome classic type 2 Ehlers-Danlos syndrome classic-like 1 Ehlers-Danlos syndrome classic-like 2 Ehlers-Danlos syndrome dermatosparaxis type Ehlers-Danlos syndrome hypermobility type Ehlers-Danlos syndrome kyphoscoliotic type 1 Ehlers-Danlos syndrome kyphoscoliotic type 2 Ehlers-Danlos syndrome musculocontractural type 1 Ehlers-Danlos syndrome musculocontractural type 2 Ehlers-Danlos syndrome periodontal type 1 Ehlers-Danlos syndrome periodontal type 2 Ehlers-Danlos syndrome spondylodysplastic type 1 Ehlers-Danlos syndrome spondylodysplastic type 2 Ehlers-Danlos syndrome spondylodysplastic type 3 vascular type Ehlers-Danlos syndrome Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models