Term Name: | Ehlers-Danlos syndrome classic type 1 |
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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 ) |