Term Name: | Ehlers-Danlos syndrome dermatosparaxis type |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080733] ( DOID:0080733 ) |