Term Name: Ehlers-Danlos syndrome classic type 1
Synonyms: 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.
Ontology: Human Disease [DOID:14720]   ( DOID:14720 )

Relationships
is a type of: autosomal dominant disease Ehlers-Danlos syndrome