Version: 8.0.0
Date: Tue Jan 28 2025
vascular type Ehlers-Danlos syndrome
DOID:14756
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

vascular type Ehlers-Danlos syndrome

Definition
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
Synonyms
  • autosomal dominant type IV Ehlers-Danlos syndrome
Cross References
Parent Terms
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