Metadata | |
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ID | DOID:0080733 |
Name | Ehlers-Danlos syndrome dermatosparaxis type |
Definition | An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/28306229/ |
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