Version: 8.0.0
Date: Tue Jan 28 2025
Ehlers-Danlos syndrome classic type 1
DOID:14720
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Ehlers-Danlos syndrome classic type 1

Definition
An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
Synonyms
  • Ehlers-Danlos syndrome, type 1
  • type I Ehlers-Danlos syndrome
Cross References
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