|OBO ID: DOID:14720|
|Term Name:||Ehlers-Danlos syndrome classic type 1||Search Ontology:|
|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. https://pubmed.ncbi.nlm.nih.gov/28306229/|
|Ontology:||Human Disease (DOID:14720)|
|is a type of:||
OTHER Ehlers-Danlos syndrome classic type 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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