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Ehlers-Danlos syndrome classic type 1
Summary
- Synonym
-
- Ehlers-Danlos syndrome, type 1
- type I Ehlers-Danlos syndrome
- 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.
- Super Class
- Ehlers-Danlos syndrome autosomal dominant disease
Related Genes
