OBO ID: DOID:0080733 |
Term Name: | Ehlers-Danlos syndrome dermatosparaxis type | Search Ontology: | |
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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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Ontology: | Human Disease ( DOID:0080733 ) |
OTHER Ehlers-Danlos syndrome dermatosparaxis type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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